Keywords
Last Name
Institution

Robert J. Desnick

TitleDEAN FOR GENETICS AND GENOMIC MEDICINE
InstitutionMount Sinai
Address
    Other Positions
    TitlePROFESSOR AND CHAIRMAN EMERITUS Genetics and Genomic Sciences
    InstitutionMount Sinai

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentPediatrics

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentOncological Sciences

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentObstetrics, Gynecology and Reproductive Science


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, Defronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA. Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice. Am J Hum Genet. 2013 Dec 5; 93(6):1061-71.
      View in: PubMed
    2. Kimmel SE, French B, Kasner SE, Johnson JA, Anderson JL, Gage BF, Rosenberg YD, Eby CS, Madigan RA, McBane RB, Abdel-Rahman SZ, Stevens SM, Yale S, Mohler ER, Fang MC, Shah V, Horenstein RB, Limdi NA, Muldowney JA, Gujral J, Delafontaine P, Desnick RJ, Ortel TL, Billett HH, Pendleton RC, Geller NL, Halperin JL, Goldhaber SZ, Caldwell MD, Califf RM, Ellenberg JH. A Pharmacogenetic versus a Clinical Algorithm for Warfarin Dosing. N Engl J Med. 2013 Dec 12; 369(24):2283-93.
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    3. Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec; 198(3):720-2.
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    4. Kadian-Dodov DL, van der Zee SA, Scott SA, Peter I, Martis S, Doheny DO, Rothlauf EB, Lubitz SA, Desnick RJ, Halperin JL. Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects. Vasc Med. 2013 Oct; 18(5):290-7.
      View in: PubMed
    5. Scott SA, Tan Q, Baber U, Yang Y, Martis S, Bander J, Kornreich R, Hulot JS, Desnick RJ. An allele-specific PCR system for rapid detection and discrimination of the CYP2C19*4A, *4B, and *17 alleles: implications for clopidogrel response testing. J Mol Diagn. 2013 Nov; 15(6):783-9.
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    6. Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, Ramirez C, Kasai Y, Hyatt T, Peter I, Desnick RJ. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology. 2013 Sep; 58(3):958-65.
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    7. Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, Crawford DC, Wang J, Liu N, Tatonetti N, Bourgeois S, Takahashi H, Bradford Y, Burkley BM, Desnick RJ, Halperin JL, Khalifa SI, Langaee TY, Lubitz SA, Nutescu EA, Oetjens M, Shahin MH, Patel SR, Sagreiya H, Tector M, Weck KE, Rieder MJ, Scott SA, Wu AH, Burmester JK, Wadelius M, Deloukas P, Wagner MJ, Mushiroda T, Kubo M, Roden DM, Cox NJ, Altman RB, Klein TE, Nakamura Y, Johnson JA. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet. 2013 Aug 31; 382(9894):790-6.
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    8. Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013; 19:26-35.
      View in: PubMed
    9. Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant SR, Silverberg MS, Gregersen PK, Katz S, Lifton RP, Zhao H, Nuñez G, Pe'er I, Peter I, Cho JH. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-?B pathway gene, HEATR3. Genes Immun. 2013 Jul-Aug; 14(5):310-6.
      View in: PubMed
    10. Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med. 2013; 19:18-25.
      View in: PubMed
    11. Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013 Jun; 58(6):1230-43.
      View in: PubMed
    12. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013 Aug; 15(8):618-23.
      View in: PubMed
    13. Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J. 2013 Dec; 13(6):558-66.
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    14. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15; 22(4):696-703.
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    15. Chien YH, Lee NC, Chiang SC, Desnick RJ, Hwu WL. Fabry disease: incidence of the common later-onset a-galactosidase A IVS4+919G?A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med. 2012; 18:780-4.
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    16. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29; 120(23):4496-504.
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    17. Martis S, Peter I, Hulot JS, Kornreich R, Desnick RJ, Scott SA. Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. Pharmacogenomics J. 2013 Aug; 13(4):369-77.
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    18. Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet. 2012; 8(3):e1002559.
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    19. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology Am Soc Hematol Educ Program. 2012; 2012:19-27.
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    20. Desnick RJ, Schuchman EH. Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet. 2012; 13:307-35.
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    21. Scott SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU. Pharmacogenomics. 2012 Feb; 13(3):297-307.
      View in: PubMed
    22. Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet. 2011 Oct; 48(10):716-20.
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    23. Haghighi A, Masri A, Kornreich R, Desnick RJ. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. Mol Genet Metab. 2011 Dec; 104(4):700-2.
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    24. Barginear MF, Jaremko M, Peter I, Yu C, Kasai Y, Kemeny M, Raptis G, Desnick RJ. Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score. Clin Pharmacol Ther. 2011 Oct; 90(4):605-11.
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    25. Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. J Hum Genet. 2011 Sep; 56(9):682-4.
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    26. Franco HL, Casasnovas JJ, Leon RG, Friesel R, Ge Y, Desnick RJ, Cadilla CL. Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. Int J Biochem Cell Biol. 2011 Oct; 43(10):1523-31.
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    27. Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Aug 15; 879(24):2389-96.
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    28. Feldt-Rasmussen U, Dobrovolny R, Nazarenko I, Ballegaard M, Hasholt L, Rasmussen AK, Christensen EI, Sorensen SS, Wibrand F, Desnick RJ. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" a-galactosidase a large deletion. Mol Genet Metab. 2011 Nov; 104(3):314-8.
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    29. Peter I, Mitchell AA, Ozelius L, Erazo M, Hu J, Doheny D, Abreu MT, Present DH, Ullman T, Benkov K, Korelitz BI, Mayer L, Desnick RJ. Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. BMC Med Genet. 2011; 12:63.
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    30. Dobrovolny R, Nazarenko I, Kim J, Doheny D, Desnick RJ. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel a-galactosidase A (GLA) deletions causing Fabry disease. Hum Mutat. 2011 Jun; 32(6):688-95.
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    31. Balwani M, Grace ME, Desnick RJ. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. J Inherit Metab Dis. 2011 Jun; 34(3):789-93.
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    32. Scott SA, Martis S, Peter I, Kasai Y, Kornreich R, Desnick RJ. Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Pharmacogenomics J. 2012 Aug; 12(4):297-305.
      View in: PubMed
    33. Bishop DF, Clavero S, Mohandas N, Desnick RJ. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Mol Med. 2011; 17(7-8):748-56.
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    34. Marshall J, Ashe KM, Bangari D, McEachern K, Chuang WL, Pacheco J, Copeland DP, Desnick RJ, Shayman JA, Scheule RK, Cheng SH. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One. 2010; 5(11):e15033.
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    35. Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis. 2011 Feb; 34(1):225-31.
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    36. Jaremko M, Kasai Y, Barginear MF, Raptis G, Desnick RJ, Yu C. Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Anal Chem. 2010 Dec 15; 82(24):10186-93.
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    37. Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat. 2010 Nov; 31(11):1240-50.
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    38. Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med. 2011 Mar-Apr; 17(3-4):241-7.
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    39. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. Arch Intern Med. 2010 Sep 13; 170(16):1463-9.
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    40. Tukel T, Šošic D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet. 2010 Aug 13; 87(2):289-96.
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    41. Bernstein DL, Bialer MG, Mehta L, Desnick RJ. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):130-3.
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    42. Scott SA, Khasawneh R, Peter I, Kornreich R, Desnick RJ. Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. Pharmacogenomics. 2010 Jun; 11(6):781-91.
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    43. Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct; 16(9-10):381-8.
      View in: PubMed
    44. Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010 May; 146(5):529-33.
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    45. Galende E, Karakikes I, Edelmann L, Desnick RJ, Kerenyi T, Khoueiry G, Lafferty J, McGinn JT, Brodman M, Fuster V, Hajjar RJ, Polgar K. Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cell Reprogram. 2010 Apr; 12(2):117-25.
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    46. Lubitz SA, Scott SA, Rothlauf EB, Agarwal A, Peter I, Doheny D, Van Der Zee S, Jaremko M, Yoo C, Desnick RJ, Halperin JL. Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population. J Thromb Haemost. 2010 May; 8(5):1018-26.
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    47. Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med. 2010 Feb; 12(2):85-92.
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    48. Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E, Desnick RJ. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010 Jan; 41(1):78-81.
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    49. Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood. 2010 Feb 4; 115(5):1062-9.
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    50. Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15; 19(4):584-96.
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    51. Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther. 2010 Jan; 18(1):17-22.
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    52. Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM. Use of complementary and alternative medicine by patients with lysosomal storage diseases. Genet Med. 2009 Oct; 11(10):722-7.
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    53. Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat. 2009 Oct; 30(10):1397-405.
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    54. Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther. 2010 Jan; 18(1):23-33.
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    55. Scott SA, Jaremko M, Lubitz SA, Kornreich R, Halperin JL, Desnick RJ. CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics. 2009 Aug; 10(8):1243-55.
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    56. Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis. 2009 Jun; 32(3):424-40.
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    57. Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul; 24(7):2102-11.
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    58. McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008 Aug; 122(2):e341-9.
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    59. Cunha L, Kuti M, Bishop DF, Mezei M, Zeng L, Zhou MM, Desnick RJ. Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins. 2008 May 1; 71(2):855-73.
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    60. Scott SA, Edelmann L, Kornreich R, Desnick RJ. Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am J Hum Genet. 2008 Feb; 82(2):495-500.
      View in: PubMed
    61. Yasuda M, Domaradzki ME, Armentano D, Cheng SH, Bishop DF, Desnick RJ. Acute intermittent porphyria: vector optimization for gene therapy. J Gene Med. 2007 Sep; 9(9):806-11.
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    62. Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum Mutat. 2007 Sep; 28(9):866-73.
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    63. Desnick RJ. Prenatal diagnosis of Fabry disease. Prenat Diagn. 2007 Aug; 27(8):693-4.
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    64. Scott SA, Edelmann L, Kornreich R, Erazo M, Desnick RJ. CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics. 2007 Jul; 8(7):721-30.
      View in: PubMed
    65. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007 May; 18(5):1547-57.
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    66. Ziegler RJ, Cherry M, Barbon CM, Li C, Bercury SD, Armentano D, Desnick RJ, Cheng SH. Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol Ther. 2007 Mar; 15(3):492-500.
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    67. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16; 146(2):77-86.
      View in: PubMed
    68. Wasserstein MP, Aron A, Brodie SE, Simonaro C, Desnick RJ, McGovern MM. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct; 149(4):554-9.
      View in: PubMed
    69. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul; 79(1):31-40.
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    70. Nance CS, Klein CJ, Banikazemi M, Dikman SH, Phelps RG, McArthur JC, Rodriguez M, Desnick RJ. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. Arch Neurol. 2006 Mar; 63(3):453-7.
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    71. Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics. 2006 Mar; 2(5):297-309.
      View in: PubMed
    72. Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab. 2006 Mar; 87(3):213-8.
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    73. Bishop DF, Johansson A, Phelps R, Shady AA, Ramirez MC, Yasuda M, Caro A, Desnick RJ. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Am J Hum Genet. 2006 Apr; 78(4):645-58.
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    74. Banikazemi M, Desnick RJ. Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis? Nat Clin Pract Nephrol. 2006 Feb; 2(2):72-3.
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    75. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006 Jan 24; 66(2):228-32.
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    76. Desnick RJ, Banikazemi M. Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. Nephrol Ther. 2006 Jan; 2 Suppl 2:S172-85.
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    77. Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Arch Dermatol. 2005 Dec; 141(12):1575-9.
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    78. Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006 Jan; 238(1):339-45.
      View in: PubMed
    79. Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, Schuchman EH, Cheng SH. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Mol Ther. 2005 Sep; 12(3):431-40.
      View in: PubMed
    80. Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005 Aug; 85(4):255-9.
      View in: PubMed
    81. Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005 May; 42(5):408-15.
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    82. Magage S, Linhart A, Bultas J, Vojacek J, Mates M, Palecek T, Popelová J, Tintera J, Aschermann M, Goldman ME, Desnick RJ. Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography. 2005 Apr; 22(4):333-9.
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    83. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15; 142(6):439-50.
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    84. Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat. 2005 Mar; 25(3):299-305.
      View in: PubMed
    85. Kotnik J, Kotnik F, Desnick RJ. Fabry disease. A case report. Acta Dermatovenerol Alp Panonica Adriat. 2005 Mar; 14(1):15-9.
      View in: PubMed
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    87. Wasserstein MP, Desnick RJ, Schuchman EH, Hossain S, Wallenstein S, Lamm C, McGovern MM. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics. 2004 Dec; 114(6):e672-7.
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    88. Solis C, Martinez-Bermejo A, Naidich TP, Kaufmann WE, Astrin KH, Bishop DF, Desnick RJ. Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. Arch Neurol. 2004 Nov; 61(11):1764-70.
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    89. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004 Sep-Oct; 6(5):387-91.
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    90. Kornreich R, Ekstein J, Edelmann L, Desnick RJ. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med. 2004 Sep-Oct; 6(5):415-20.
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    91. Edelmann L, Hashmi G, Song Y, Han Y, Kornreich R, Desnick RJ. Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. Genet Med. 2004 Sep-Oct; 6(5):431-8.
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    92. Desnick RJ. Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther. 2004 Jul; 4(7):1167-76.
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    93. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology. 2004 Jul; 111(7):1424-7.
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    94. McGovern MM, Pohl-Worgall T, Deckelbaum RJ, Simpson W, Mendelson D, Desnick RJ, Schuchman EH, Wasserstein MP. Lipid abnormalities in children with types A and B Niemann Pick disease. J Pediatr. 2004 Jul; 145(1):77-81.
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    95. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004 Jul; 75(1):65-74.
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    96. Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr. 2004 May; 144(5 Suppl):S20-6.
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    97. Tukel T, Shalata A, Present D, Rachmilewitz D, Mayer L, Grant D, Risch N, Desnick RJ. Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet. 2004 Apr; 74(4):623-36.
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    98. Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004 Mar-Apr; 28(2):158-68.
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    99. Solis CS, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ. Gene symbol: HMBS. Disease: Acute intermittent porphyria. Hum Genet. 2004 Mar; 114(4):402.
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    100. Ziegler RJ, Lonning SM, Armentano D, Li C, Souza DW, Cherry M, Ford C, Barbon CM, Desnick RJ, Gao G, Wilson JM, Peluso R, Godwin S, Carter BJ, Gregory RJ, Wadsworth SC, Cheng SH. AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol Ther. 2004 Feb; 9(2):231-40.
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    101. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004; 27(3):385-410.
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    102. Meehan SM, Junsanto T, Rydel JJ, Desnick RJ. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis. 2004 Jan; 43(1):164-71.
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    103. Durham JH, Desnick RJ, Imbriano L, Wasserstein M, D'Agati VD, Markowitz GS. Prolonged postpartum proteinuria after early preeclampsia. Am J Kidney Dis. 2004 Jan; 43(1):186-91.
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    104. Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors. J Gene Med. 2004 Jan; 6(1):85-92.
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    105. Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Hum Mutat. 2003 Dec; 22(6):486-92.
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    106. Zhu Y, Li X, Schuchman EH, Desnick RJ, Cheng SH. Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages. J Pharmacol Exp Ther. 2004 Feb; 308(2):705-11.
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    107. Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab. 2003 Nov; 80(3):307-14.
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    108. Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet. 2003 Oct; 40(10):767-72.
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    109. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003 Sep; 64(3):801-7.
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    110. Yasuda M, Shabbeer J, Osawa M, Desnick RJ. Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. Am J Hum Genet. 2003 Jul; 73(1):162-73.
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    111. Miller A, Brown LK, Pastores GM, Desnick RJ. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet. 2003 May; 63(5):368-76.
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    112. Santana da Silva LC, Carvalho TS, da Silva FB, Morari L, Fachel AA, Pires R, Refosco LF, Desnick RJ, Giugliani R, Saraiva Pereira ML. Molecular characterization of phenylketonuria in South Brazil. Mol Genet Metab. 2003 May; 79(1):17-24.
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    113. Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med. 2003 Apr 24; 348(17):1664-70.
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    114. Wasserstein MP, Larkin AE, Glass RB, Schuchman EH, Desnick RJ, McGovern MM. Growth restriction in children with type B Niemann-Pick disease. J Pediatr. 2003 Apr; 142(4):424-8.
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    115. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003 Feb 18; 138(4):338-46.
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    116. Victor S, Coulter JB, Besley GT, Ellis I, Desnick RJ, Schuchman EH, Vellodi A. Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis. 2003; 26(8):775-85.
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    117. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002 Dec; 62(6):1933-46.
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    118. Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet. 2002 Dec; 3(12):954-66.
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    119. Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Cystic fibrosis carrier screening: issues in implementation. Genet Med. 2002 Nov-Dec; 4(6):407-9.
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    120. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002 Dec; 71(6):1413-9.
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    121. Asfaw B, Ledvinová J, Dobrovolny R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D. Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. J Lipid Res. 2002 Jul; 43(7):1096-104.
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    122. Dong J, Edelmann L, Bajwa AM, Kornreich R, Desnick RJ. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Am J Med Genet. 2002 Jul 1; 110(3):253-7.
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    123. Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun; 117(4):779-95.
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    124. Li C, Ziegler RJ, Cherry M, Lukason M, Desnick RJ, Yew NS, Cheng SH. Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease. Mol Ther. 2002 Jun; 5(6):745-54.
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    125. Germain DP, Shabbeer J, Cotigny S, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med. 2002 Jun; 8(6):306-12.
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    126. Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Br J Haematol. 2002 Jun; 117(4):980-7.
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    127. Ziegler RJ, Li C, Cherry M, Zhu Y, Hempel D, van Rooijen N, Ioannou YA, Desnick RJ, Goldberg MA, Yew NS, Cheng SH. Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. Hum Gene Ther. 2002 May 20; 13(8):935-45.
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    128. Ashley GA, Desnick RJ, Gordon RE, Gordon JW. High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease. J Investig Med. 2002 May; 50(3):185-92.
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    129. Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol Genet Metab. 2002 May; 76(1):23-30.
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    130. Edelmann L, Dong J, Desnick RJ, Kornreich R. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet. 2002 Apr; 70(4):1023-7.
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    131. Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 2002 Apr; 70(4):994-1002.
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    132. Desnick RJ, Banikazemi M, Wasserstein M. Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol. 2002 Jan; 57(1):1-8.
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    133. Uçakhan OO, Brodie SE, Desnick R, Willner J, Asbell PA. Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome. CLAO J. 2001 Oct; 27(4):234-7.
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    134. Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001 Aug; 45(2):279-82.
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    135. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med. 2001 Jul 5; 345(1):25-32.
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    136. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med. 2001 Jul 5; 345(1):9-16.
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    137. Martignetti JA, Aqeel AA, Sewairi WA, Boumah CE, Kambouris M, Mayouf SA, Sheth KV, Eid WA, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul; 28(3):261-5.
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    138. Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab. 2001 Jun; 73(2):160-3.
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    139. Zinberg RE, Kornreich R, Edelmann L, Desnick RJ. Prenatal genetic screening in the Ashkenazi Jewish population. Clin Perinatol. 2001 Jun; 28(2):367-82.
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    140. Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med. 2001 May-Jun; 3(3):200-5.
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    141. Akolkar PN, Gulwani-Akolkar B, Lin XY, Zhou Z, Daly M, Katz S, Levine J, Present D, Gelb B, Desnick R, Mayer L, Silver J. The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease. Am J Gastroenterol. 2001 Apr; 96(4):1127-32.
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    142. Desnick RJ. Enzyme replacement and beyond. J Inherit Metab Dis. 2001 Apr; 24(2):251-65.
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    143. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001 Mar-Apr; 3(2):149-54.
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    144. Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest. 2001 Mar; 107(6):753-62.
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    145. Grody WW, Desnick RJ. Cystic fibrosis population carrier screening: here at last--are we ready? Genet Med. 2001 Mar-Apr; 3(2):87-90.
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    146. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001 Mar; 68(3):711-22.
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    147. Desnick RJ, Wasserstein MP. Fabry disease: clinical features and recent advances in enzyme replacement therapy. Adv Nephrol Necker Hosp. 2001; 31:317-39.
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    149. Desnick RJ, Kaback MM. Future perspectives for Tay-Sachs disease. Adv Genet. 2001; 44:349-56.
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    153. Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet. 2001 Jan; 68(1):14-25.
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    154. Aizencang G, Solis C, Bishop DF, Warner C, Desnick RJ. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics. 2000 Dec 1; 70(2):223-31.
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    155. Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH. Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. 2000 Oct; 14(13):1988-95.
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    156. Ramdall RB, Cunha L, Astrin KH, Katz DR, Anderson KE, Glucksman M, Bottomley SS, Desnick RJ. Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene. Genet Med. 2000 Sep-Oct; 2(5):290-5.
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    157. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep; 26(1):103-5.
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    158. Al Aqeel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet. 2000 Jul 3; 93(1):11-8.
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    159. Sicherer SH, Furlong TJ, Maes HH, Desnick RJ, Sampson HA, Gelb BD. Genetics of peanut allergy: a twin study. J Allergy Clin Immunol. 2000 Jul; 106(1 Pt 1):53-6.
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    160. Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med. 2000 Jul; 48(4):227-35.
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    161. Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet. 2000 Jun; 66(6):1821-32.
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    162. Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, Desnick RJ. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. Am J Hum Genet. 2000 Apr; 66(4):1449-54.
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    163. Ohta M, Ohnishi T, Ioannou YA, Hodgson ME, Matsuura F, Desnick RJ. Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides. Glycobiology. 2000 Mar; 10(3):251-61.
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    164. Verghese J, Goldberg RF, Desnick RJ, Grace ME, Goldman JE, Lee SC, Dickson DW, Rapin I. Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Arch Neurol. 2000 Mar; 57(3):389-95.
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    165. Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet. 2000 Feb; 8(2):95-102.
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    166. Martignetti JA, Gelb BD, Pierce H, Picci P, Desnick RJ. Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect. Genes Chromosomes Cancer. 2000 Feb; 27(2):191-5.
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    167. Aizencang GI, Bishop DF, Forrest D, Astrin KH, Desnick RJ. Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. J Biol Chem. 2000 Jan 28; 275(4):2295-304.
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    168. Desnick RJ, Korf B, Blitzer MG, Saul R. Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop. Am J Med Genet. 2000 Jan 17; 90(2):169-72.
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    169. Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med. 1999 Dec; 5(12):806-11.
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    170. Nishi Y, Atley L, Eyre DE, Edelson JG, Superti-Furga A, Yasuda T, Desnick RJ, Gelb BD. Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. J Bone Miner Res. 1999 Nov; 14(11):1902-8.
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    171. De Siervi A, Rossetti MV, Parera VE, Astrin KH, Aizencang GI, Glass IA, Batlle AM, Desnick RJ. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. Am J Med Genet. 1999 Oct 8; 86(4):366-75.
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    172. Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). Mol Med. 1999 Oct; 5(10):664-71.
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    173. Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C. Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis. 1999 Oct; 22(7):788-94.
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    174. Rudolf J, Grond M, Schindler D, Heiss WD, Desnick RJ. Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. J Child Neurol. 1999 Aug; 14(8):543-7.
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    175. Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet. 1999 Jul; 22(3):309-12.
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    176. Ziegler RJ, Yew NS, Li C, Cherry M, Berthelette P, Romanczuk H, Ioannou YA, Zeidner KM, Desnick RJ, Cheng SH. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther. 1999 Jul 1; 10(10):1667-82.
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    177. Qu Y, Shapira E, Desnick RJ. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. Mol Genet Metab. 1999 Jul; 67(3):206-12.
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    178. Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am J Med Genet. 1999 Jun 11; 84(5):420-4.
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    179. Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Am J Med Genet. 1999 Jun 4; 84(4):334-9.
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    180. He X, Li CM, Simonaro CM, Wan Q, Haskins ME, Desnick RJ, Schuchman EH. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab. 1999 Jun; 67(2):106-12.
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    181. McGovern MM, Benach MO, Wallenstein S, Desnick RJ, Keenlyside R. Quality assurance in molecular genetic testing laboratories. JAMA. 1999 Mar 3; 281(9):835-40.
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    182. Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, Gelb BD. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. Am J Hum Genet. 1999 Mar; 64(3):801-7.
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    183. Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. J Clin Invest. 1999 Mar; 103(6):817-23.
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    184. Banikazemi M, Diaz GA, Vossough P, Jalali M, Desnick RJ, Gelb BD. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol Genet Metab. 1999 Mar; 66(3):193-8.
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    185. Hou WS, Brömme D, Zhao Y, Mehler E, Dushey C, Weinstein H, Miranda CS, Fraga C, Greig F, Carey J, Rimoin DL, Desnick RJ, Gelb BD. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest. 1999 Mar; 103(5):731-8.
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    186. Zeidner KM, Desnick RJ, Ioannou YA. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem. 1999 Feb 1; 267(1):104-13.
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    187. Topaloglu AK, Sansaricq C, Fox JE, Bale AE, Tuchman M, Desnick RJ. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. J Inherit Metab Dis. 1999 Feb; 22(1):82-3.
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    188. Shefer S, Salen G, Honda A, Batta AK, Nguyen LB, Tint GS, Ioannou YA, Desnick R. Regulation of rat hepatic 3beta-hydroxysterol delta7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation. J Lipid Res. 1998 Dec; 39(12):2471-6.
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    189. Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, Yetgin S, Ersoy F, Aizencang G, Astrin KH, Desnick RJ. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood. 1998 Dec 1; 92(11):4053-8.
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    190. Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet. 1998 Nov; 63(5):1363-75.
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    191. Wang AM, Ioannou YA, Zeidner KM, Desnick RJ. Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family. Mol Genet Metab. 1998 Oct; 65(2):165-73.
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    192. Kauppinen R, Glass IA, Aizencang G, Astrin KH, Atweh GF, Desnick RJ. Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. Mol Genet Metab. 1998 Sep; 65(1):10-7.
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    193. Li L, Eng C, Desnick RJ, German J, Ellis NA. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab. 1998 Aug; 64(4):286-90.
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    194. Cotter PD, Babu A, Willner JP, Desnick RJ. Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes. Prenat Diagn. 1998 Aug; 18(8):857-61.
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    195. Wex T, Levy B, Smeekens SP, Ansorge S, Desnick RJ, Bromme D. Genomic structure, chromosomal localization, and expression of human cathepsin W. Biochem Biophys Res Commun. 1998 Jul 20; 248(2):255-61.
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    196. Ioannou YA, Zeidner KM, Grace ME, Desnick RJ. Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J. 1998 Jun 15; 332 ( Pt 3):789-97.
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    197. Desnick RJ, Schuchman EH. Gene therapy for genetic diseases. Acta Paediatr Jpn. 1998 Jun; 40(3):191-203.
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    198. Grody WW, Desnick RJ, Carpenter NJ, Noll WW. Diversity of cystic fibrosis mutation-screening practices. Am J Hum Genet. 1998 May; 62(5):1252-4.
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    199. Matsuura F, Ohta M, Ioannou YA, Desnick RJ. Human alpha-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. Glycobiology. 1998 Apr; 8(4):329-39.
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    200. Fleming DE, Chettle DR, Wetmur JG, Desnick RJ, Robin JP, Boulay D, Richard NS, Gordon CL, Webber CE. Effect of the delta-aminolevulinate dehydratase polymorphism on the accumulation of lead in bone and blood in lead smelter workers. Environ Res. 1998 Apr; 77(1):49-61.
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    201. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet. 1998 Apr; 62(4):848-54.
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    202. Desnick RJ. Association of Professors of Human and Medical Genetics: summary of the third annual workshop. Am J Med Genet. 1998 Jan 23; 75(3):318-25.
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    203. Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. Hum Mutat. 1998; 11(4):328-30.
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    204. Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis. 1998; 18(1):77-84.
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    205. Ashton-Prolla P, Gershin IF, Babu A, Neu RL, Zinberg RE, Willner JP, Desnick RJ, Cotter PD. Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin. Am J Med Genet. 1997 Dec 31; 73(4):470-3.
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    206. Osman N, McKenzie IF, Ostenried K, Ioannou YA, Desnick RJ, Sandrin MS. Combined transgenic expression of alpha-galactosidase and alpha1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galalpha(1,3)Gal. Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26):14677-82.
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    207. Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD. Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X). Clin Genet. 1997 Dec; 52(6):432-5.
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    208. Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R, Desnick RJ. Prenatal genetic carrier testing using triple disease screening. JAMA. 1997 Oct 15; 278(15):1268-72.
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    209. Bergdahl IA, Grubb A, Schütz A, Desnick RJ, Wetmur JG, Sassa S, Skerfving S. Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes. Pharmacol Toxicol. 1997 Oct; 81(4):153-8.
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    210. Fitzmaurice TF, Desnick RJ, Bishop DF. Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele. J Inherit Metab Dis. 1997 Sep; 20(5):643-57.
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    211. Medintz I, Levine L, McCurdy L, Chiriboga L, Kingston C, Crim D, Desnick RJ, Eng CM, Kobilinsky L. HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations. J Forensic Sci. 1997 Sep; 42(5):919-22.
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    212. Cotter PD, McCurdy LD, Gershin IF, Babu A, Willner JP, Desnick RJ. Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19. Am J Med Genet. 1997 Aug 22; 71(3):325-8.
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    213. Caggana M, Ashley GA, Desnick RJ, Eng CM. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am J Med Genet. 1997 Aug 22; 71(3):329-35.
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    214. Grace ME, Desnick RJ, Pastores GM. Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. J Clin Invest. 1997 May 15; 99(10):2530-7.
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    215. Gelb BD, Shi GP, Heller M, Weremowicz S, Morton C, Desnick RJ, Chapman HA. Structure and chromosomal assignment of the human cathepsin K gene. Genomics. 1997 Apr 15; 41(2):258-62.
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    216. Abad MM, Cotter PD, Fodor FH, Larson S, Ginsberg-Fellner F, Desnick RJ, Abdenur JE. Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. Metabolism. 1997 Apr; 46(4):445-9.
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    217. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med. 1997 Mar; 3(3):174-82.
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    218. Bergdahl IA, Gerhardsson L, Schütz A, Desnick RJ, Wetmur JG, Skerfving S. Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humans. Arch Environ Health. 1997 Mar-Apr; 52(2):91-6.
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    219. Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ. Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med. 1997 Mar; 155(3):1004-10.
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    220. Gelb BD, Zhang J, Cotter PD, Gershin IF, Desnick RJ. Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21. Genomics. 1997 Feb 1; 39(3):409-11.
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    221. Levy B, Gershin IF, Desnick RJ, Babu A, Gelb BD, Hirschhorn K, Cotter PD. Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. Cytogenet Cell Genet. 1997; 76(1-2):68-71.
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    222. Cotter PD, Babu A, McCurdy LD, Caggana M, Willner JP, Desnick RJ. Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases. Ann Genet. 1997; 40(4):222-6.
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    223. Qu Y, Miller JB, Desnick RJ, Shapira E. Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties. Genet Test. 1997-1998; 1(4):283-7.
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    224. Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem. 1996 Dec 20; 271(51):33110-5.
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    225. Cotter PD, Caggana M, Willner JP, Babu A, Desnick RJ. Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements. Am J Med Genet. 1996 Dec 11; 66(2):197-9.
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    226. Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Brömme D, Desnick RJ. Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene. Biochem Mol Med. 1996 Dec; 59(2):200-6.
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    227. Pastores GM, Wallenstein S, Desnick RJ, Luckey MM. Bone density in Type 1 Gaucher disease. J Bone Miner Res. 1996 Nov; 11(11):1801-7.
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    228. Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996 Aug 30; 273(5279):1236-8.
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    229. Gelb BD, Spencer E, Obad S, Edelson GJ, Faure S, Weissenbach J, Desnick RJ. Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes. Hum Genet. 1996 Aug; 98(2):141-4.
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    230. Pastores GM, Hermann G, Norton KI, Lorberboym M, Desnick RJ. Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. Skeletal Radiol. 1996 Jul; 25(5):485-8.
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    231. Wu C, Xu W, Kozak CA, Desnick RJ. Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping. Mamm Genome. 1996 May; 7(5):349-52.
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    232. Qu Y, Abdenur JE, Eng CM, Desnick RJ. Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenat Diagn. 1996 Apr; 16(4):333-6.
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    233. Gotlib RW, Bishop DF, Wang AM, Zeidner KM, Ioannou YA, Adler DA, Disteche CM, Desnick RJ. The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. Biochem Mol Med. 1996 Apr; 57(2):139-48.
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    234. Xu W, Astrin KH, Desnick RJ. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. Hum Mutat. 1996; 7(3):187-92.
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    235. Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, Desnick RJ. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet. 1996; 4(4):219-24.
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    236. Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55.
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    237. Kunieda T, Simonaro CM, Yoshida M, Ikadai H, Levan G, Desnick RJ, Schuchman EH. Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. Genomics. 1995 Oct 10; 29(3):582-7.
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    238. Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G. Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. Tohoku J Exp Med. 1995 Oct; 177(2):117-23.
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    239. Saifudeen Z, Desnick RJ, Ehrlich M. A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding. FEBS Lett. 1995 Sep 4; 371(2):181-4.
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    240. Wolfe DE, Schindler D, Desnick RJ. Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. J Neurol Sci. 1995 Sep; 132(1):44-56.
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    241. Lee GY, Astrin KH, Desnick RJ. Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide. Am J Med Genet. 1995 Aug 28; 58(2):155-8.
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    242. Gelb BD, Cooper E, Shevell M, Desnick RJ. Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet. 1995 Aug 28; 58(2):200-5.
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    243. Yeyati PL, Agmon V, Fillat C, Dinur T, Dagan A, Desnick RJ, Gatt S, Schuchman EH. Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction. Hum Gene Ther. 1995 Aug; 6(8):975-83.
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    244. Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet. 1995 Jul; 10(3):288-93.
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    245. Gelb BD, Edelson JG, Desnick RJ. Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet. 1995 Jun; 10(2):235-7.
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    246. Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K. Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem. 1995 May 12; 270(19):11098-102.
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    247. Xu W, Kozak CA, Desnick RJ. Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. Genomics. 1995 Apr 10; 26(3):556-62.
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    248. Xu W, Warner CA, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest. 1995 Feb; 95(2):905-12.
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    249. Pastores GM, Hermann G, Norton K, Desnick RJ. Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy. Pediatr Radiol. 1995; 25(6):486-7.
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    250. Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. J Clin Invest. 1994 Nov; 94(5):1927-37.
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    251. Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet. 1994 Oct; 3(10):1795-9.
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    252. Wang AM, Kanzaki T, Desnick RJ. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. J Clin Invest. 1994 Aug; 94(2):839-45.
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    253. Murali R, Ioannou YA, Desnick RJ, Burnett RM. Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex. J Mol Biol. 1994 Jun 17; 239(4):578-80.
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    254. Kaya AH, Plewinska M, Wong DM, Desnick RJ, Wetmur JG. Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs. Genomics. 1994 Jan 15; 19(2):242-8.
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    255. Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat. 1994; 3(2):103-11.
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    256. Astrin KH, Desnick RJ. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mutat. 1994; 4(4):243-52.
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    257. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993 Dec; 53(6):1186-97.
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    258. Kanzaki T, Yokota M, Irie F, Hirabayashi Y, Wang AM, Desnick RJ. Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. Arch Dermatol. 1993 Apr; 129(4):460-5.
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    259. Levran O, Desnick RJ, Schuchman EH. Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease. Hum Mol Genet. 1993 Feb; 2(2):205-6.
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    260. Yoo HW, Astrin KH, Desnick RJ. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program. J Korean Med Sci. 1993 Feb; 8(1):84-91.
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    261. Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics. 1993 Jan; 15(1):21-9.
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    262. Levran O, Desnick RJ, Schuchman EH. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum Mutat. 1993; 2(4):317-9.
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    263. Kornreich R, Desnick RJ. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification. Hum Mutat. 1993; 2(2):108-11.
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    264. Desnick R. Will new therapy for genetic disease alter underwriting practices? J Insur Med. 1993; Suppl B:247-51.
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    265. Ioannou YA, Bishop DF, Desnick RJ. Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol. 1992 Dec; 119(5):1137-50.
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    266. Dinur T, Schuchman EH, Fibach E, Dagan A, Suchi M, Desnick RJ, Gatt S. Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. Hum Gene Ther. 1992 Dec; 3(6):633-9.
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    267. Levran O, Desnick RJ, Schuchman EH. Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood. 1992 Oct 15; 80(8):2081-7.
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    268. Jackson CE, Yuhki N, Desnick RJ, Haskins ME, O'Brien SJ, Schuchman EH. Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Genomics. 1992 Oct; 14(2):403-11.
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    269. Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai SF, Desnick RJ. Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. Arch Dermatol. 1992 Sep; 128(9):1243-8.
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    270. Jackson LG, Zachary JM, Fowler SE, Desnick RJ, Golbus MS, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Black S, et al. A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med. 1992 Aug 27; 327(9):594-8.
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    271. Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med. 1992 Aug 1; 117(3):221-3.
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    272. Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J Biol Chem. 1992 Jun 25; 267(18):12552-8.
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    273. Desnick RJ, Schuette JL, Golbus MS, Jackson L, Lubs HA, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Zachary JM, et al. First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study. Prenat Diagn. 1992 May; 12(5):357-72.
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    274. Golbus MS, Simpson JL, Fowler SE, de la Cruz F, Desnick RJ, Wapner R, Ledbetter DH, Lubs H, Mahoney MJ, Pergament E, et al. Risk factors associated with transcervical CVS losses. Prenat Diagn. 1992 May; 12(5):373-6.
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    275. Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, Mahoney MJ, Desnick RJ, Schulman J, Copeland KL, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992 May; 12(5):317-45.
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    276. Wapner RJ, Simpson JL, Golbus MS, Zachary JM, Ledbetter DH, Desnick RJ, Fowler SE, Jackson LG, Lubs H, Mahony RJ, et al. Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome. Prenat Diagn. 1992 May; 12(5):347-55.
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    277. Kornreich R, Astrin KH, Desnick RJ. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A. Genomics. 1992 May; 13(1):70-4.
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    278. Suchi M, Dinur T, Desnick RJ, Gatt S, Pereira L, Gilboa E, Schuchman EH. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc Natl Acad Sci U S A. 1992 Apr 15; 89(8):3227-31.
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    279. Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. Genomics. 1992 Apr; 12(4):643-50.
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    280. Jin WD, Jackson CE, Desnick RJ, Schuchman EH. Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am J Hum Genet. 1992 Apr; 50(4):795-800.
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    281. Guzman NA, Ascari WQ, Cutroneo KR, Desnick RJ. Comparison between avian and human prolyl 4-hydroxylases: studies on the holomeric enzymes and their constituent subunits. J Cell Biochem. 1992 Feb; 48(2):172-89.
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    282. Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics. 1992 Feb; 12(2):197-205.
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    283. Warner CA, Yoo HW, Roberts AG, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest. 1992 Feb; 89(2):693-700.
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    284. Takahashi T, Desnick RJ, Takada G, Schuchman EH. Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. Hum Mutat. 1992; 1(1):70-1.
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    285. Wetmur JG, Lehnert G, Desnick RJ. The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. Environ Res. 1991 Dec; 56(2):109-19.
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    286. Wetmur JG, Kaya AH, Plewinska M, Desnick RJ. Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am J Hum Genet. 1991 Oct; 49(4):757-63.
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    287. Levran O, Desnick RJ, Schuchman EH. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest. 1991 Sep; 88(3):806-10.
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    288. Astrin KH, Kaya AH, Wetmur JG, Desnick RJ. RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34. Nucleic Acids Res. 1991 Aug 11; 19(15):4307.
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    289. Jin WD, Desnick RJ, Schuchman EH. A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14. Nucleic Acids Res. 1991 Aug 11; 19(15):4305.
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    290. Kanzaki T, Wang AM, Desnick RJ. Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. J Clin Invest. 1991 Aug; 88(2):707-11.
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    291. Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ. delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet. 1991 Jul; 49(1):167-74.
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    292. Schuchman EH, Levran O, Suchi M, Desnick RJ. An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). Nucleic Acids Res. 1991 Jun 11; 19(11):3160.
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    293. Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF. Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol. 1991 Jun; 138(6):1553-5.
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    294. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem. 1991 May 5; 266(13):8531-9.
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    295. Wang AM, Desnick RJ. Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. Genomics. 1991 May; 10(1):133-42.
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    296. Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A. 1991 May 1; 88(9):3748-52.
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    297. Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3. Hum Genet. 1991 May; 87(1):18-22.
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    298. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991 Feb 7; 324(6):395-9.
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    299. da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. Genomics. 1991 Feb; 9(2):229-34.
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    300. Wang AM, Bishop DF, Desnick RJ. Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. J Biol Chem. 1990 Dec 15; 265(35):21859-66.
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    301. Wang AM, Schindler D, Desnick R. Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. J Clin Invest. 1990 Nov; 86(5):1752-6.
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    302. Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet. 1990 Nov; 47(5):784-9.
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    303. Schindler D, Kanzaki T, Desnick RJ. A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Clin Chim Acta. 1990 Sep; 190(1-2):81-91.
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    304. Kornreich R, Bishop DF, Desnick RJ. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem. 1990 Jun 5; 265(16):9319-26.
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    305. Sakuraba H, Bishop DF, Suzuki T, Suzuki Y, Desnick RJ. [Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]. No To Hattatsu. 1990 May; 22(3):247-52.
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    306. Wolfe JH, Schuchman EH, Stramm LE, Concaugh EA, Haskins ME, Aguirre GD, Patterson DF, Desnick RJ, Gilboa E. Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U S A. 1990 Apr; 87(8):2877-81.
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    307. Desnick RJ, Wang AM. Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit Metab Dis. 1990; 13(4):549-59.
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    308. Schuchman EH, Jackson CE, Desnick RJ. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. Genomics. 1990 Jan; 6(1):149-58.
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    309. Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J. 1989 Sep; 8(9):2469-73.
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    310. Schindler D, Bishop DF, Wolfe DE, Wang AM, Egge H, Lemieux RU, Desnick RJ. Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. N Engl J Med. 1989 Jun 29; 320(26):1735-40.
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    311. Kornreich R, Desnick RJ, Bishop DF. Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res. 1989 Apr 25; 17(8):3301-2.
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    312. Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest. 1989 Apr; 83(4):1390-9.
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    313. Schuchman EH, O'Brien SJ, Desnick RJ. Assignment of the feline alpha-L-iduronidase gene to chromosome D4. Genomics. 1989 Apr; 4(3):442-4.
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    314. Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, Ledbetter DH, Lubs HA, Mahoney MJ, Pergament E, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med. 1989 Mar 9; 320(10):609-17.
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    315. Desnick RJ, Astrin KH, Bishop DF. Fabry disease: molecular genetics of the inherited nephropathy. Adv Nephrol Necker Hosp. 1989; 18:113-27.
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    316. Schuchman EH, Toroyan TK, Haskins ME, Desnick RJ. Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII. Enzyme. 1989; 42(3):174-80.
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    317. Kornreich R, Bishop DF, Desnick RJ. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians. 1989; 102:30-43.
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    318. Tsai SF, Bishop DF, Desnick RJ. Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Proc Natl Acad Sci U S A. 1988 Oct; 85(19):7049-53.
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    319. Bishop DF, Kornreich R, Desnick RJ. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A. 1988 Jun; 85(11):3903-7.
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    320. Gudesblatt M, Ludman MD, Cohen JA, Desnick RJ, Chester S, Grabowski GA, Caroscio JT. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve. 1988 Mar; 11(3):227-30.
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    321. Schuchman EH, Desnick RJ. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. J Clin Invest. 1988 Jan; 81(1):98-105.
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    322. Bach G, Desnick RJ. Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. Enzyme. 1988; 40(1):40-4.
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    323. Osiecki-Newman K, Legler G, Grace M, Dinur T, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. Enzyme. 1988; 40(4):173-88.
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    324. Ginsberg HN, Le NA, Short MP, Ramakrishnan R, Desnick RJ. Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest. 1987 Dec; 80(6):1692-7.
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    325. Tsai SF, Bishop DF, Desnick RJ. Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem. 1987 Oct; 166(1):120-33.
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    326. Osiecki-Newman K, Fabbro D, Legler G, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. Biochim Biophys Acta. 1987 Sep 2; 915(1):87-100.
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    327. Potluri VR, Astrin KH, Wetmur JG, Bishop DF, Desnick RJ. Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. Hum Genet. 1987 Jul; 76(3):236-9.
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    328. Desai PK, Astrin KH, Thung SN, Gordon RE, Short MP, Coates PM, Desnick RJ. Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet. 1987 Mar; 26(3):689-98.
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    329. Lemansky P, Bishop DF, Desnick RJ, Hasilik A, von Figura K. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem. 1987 Feb 15; 262(5):2062-5.
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    330. Tsai SF, Bishop DF, Desnick RJ. Purification and properties of uroporphyrinogen III synthase from human erythrocytes. J Biol Chem. 1987 Jan 25; 262(3):1268-73.
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    331. Astrin KH, Bishop DF, Wetmur JG, Kaul B, Davidow B, Desnick RJ. delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. Ann N Y Acad Sci. 1987; 514:23-9.
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    332. Desnick RJ, Bernstein HS, Astrin KH, Bishop DF. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme. 1987; 38(1-4):54-64.
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    333. Fabbro D, Desnick RJ, Grabowski GA. Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet. 1987 Jan; 40(1):15-31.
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    334. Hermann G, Goldblatt J, Levy RN, Goldsmith SJ, Desnick RJ, Grabowski GA. Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol. 1986 Nov; 147(5):943-8.
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    335. Wetmur JG, Bishop DF, Cantelmo C, Desnick RJ. Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci U S A. 1986 Oct; 83(20):7703-7.
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    336. McGovern MM, Goldberg JD, Desnick RJ. Acceptability of chorionic villi sampling for prenatal diagnosis. Am J Obstet Gynecol. 1986 Jul; 155(1):25-9.
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    337. Stramm LE, Desnick RJ, Haskins ME, Aguirre GD. Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI. Invest Ophthalmol Vis Sci. 1986 Jul; 27(7):1050-7.
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    338. Bishop DF, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A. 1986 Jul; 83(13):4859-63.
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    339. Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legler G, Gatt S, Desnick RJ. Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. J Biol Chem. 1986 Jun 25; 261(18):8263-9.
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    340. Teich SA, Handwerger S, Mathur-Wagh U, Yancovitz S, Desnick RJ, Mildvan D. Toxic keratopathy associated with suramin therapy. N Engl J Med. 1986 May 29; 314(22):1455-6.
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    341. Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol. 1986 May; 7(5):1157-61.
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    342. Lipsitz DJ, Anderson VE, O'Brien JF, Desnick RJ. Tay-Sachs disease prevention in Minnesota. Role of physician advocacy in carrier screening. Minn Med. 1986 May; 69(5):272-5.
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    343. Dinur T, Osiecki KM, Legler G, Gatt S, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci U S A. 1986 Mar; 83(6):1660-4.
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    344. Bishop DF, Desnick RJ. Porphobilinogen synthase: a specific and sensitive coupled-enzyme assay. Methods Enzymol. 1986; 123:339-45.
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    345. Wetmur JG, Bishop DF, Ostasiewicz L, Desnick RJ. Molecular cloning of a cDNA for human delta-aminolevulinate dehydratase. Gene. 1986; 43(1-2):123-30.
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    346. McGovern MM, Ludman MD, Short MP, Steinfeld L, Kattan M, Raab EL, Krivit W, Desnick RJ. Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser. 1986; 22(1):41-53.
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    347. Blazar BR, Whitley CB, Desnick RJ, Pierpont ME, Filipovich AH, Ramsay NK, Kersey JH, Orr HT, Yasmineh WG, Tsai MY, et al. Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation. Birth Defects Orig Artic Ser. 1986; 22(1):135-52.
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    348. Osiecki-Newman KM, Fabbro D, Dinur T, Boas S, Gatt S, Legler G, Desnick RJ, Grabowski GA. Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose. Enzyme. 1986; 35(3):147-53.
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    349. Calhoun DH, Bishop DF, Bernstein HS, Quinn M, Hantzopoulos P, Desnick RJ. Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. Proc Natl Acad Sci U S A. 1985 Nov; 82(21):7364-8.
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    350. Mustajoki P, Desnick RJ. Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland. Br Med J (Clin Res Ed). 1985 Aug 24; 291(6494):505-9.
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    351. Desnick RJ, Ostasiewicz LT, Tishler PA, Mustajoki P. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. J Clin Invest. 1985 Aug; 76(2):865-74.
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    352. McGovern MM, Mandell N, Haskins M, Desnick RJ. Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. Genetics. 1985 Aug; 110(4):733-49.
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    353. Troy K, Cuttner J, Reilly M, Grabowski G, Desnick R. Tartrate-resistant acid phosphatase staining of monocytes in Gaucher disease. Am J Hematol. 1985 Jul; 19(3):237-44.
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    354. Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet. 1985 Jul; 21(3):529-49.
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    355. Nilsson O, Grabowski GA, Ludman MD, Desnick RJ, Svennerholm L. Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet. 1985 May; 27(5):443-50.
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    356. Stramm L, Haskins M, Desnick RJ, Aguirre G. Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI. Invest Ophthalmol Vis Sci. 1985 Feb; 26(2):182-92.
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    357. Wang AL, Astrin KH, Anderson WF, Desnick RJ. delta-Aminolevulinate dehydratase: induced expression and regional assignment of the human gene to chromosome 9q13----qter. Hum Genet. 1985; 70(1):6-10.
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    358. Gatt S, Dinur T, Osiecki K, Desnick RJ, Grabowski GA. Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase. Enzyme. 1985; 33(2):109-19.
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    359. Inui K, Yutaka T, Okada S, Yabuuchi H, Wenger DA, Desnick RJ. Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. J Inherit Metab Dis. 1985; 8(3):149-50.
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    360. Schwartz MF, Kaffe S, Wallace S, Desnick RJ. Interstitial deletion of the long arm of chromosome 6 [del(6) (q16q22)]: case report and review of the literature. Clin Genet. 1984 Dec; 26(6):574-8.
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    361. Grabowski GA, Kruse JR, Goldberg JD, Chockkalingam K, Gordon RE, Blakemore KJ, Mahoney MJ, Desnick RJ. First-trimester prenatal diagnosis of Tay-Sachs disease. Am J Hum Genet. 1984 Nov; 36(6):1369-78.
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    362. Aula P, Astrin KH, Francke U, Desnick RJ. Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). Am J Hum Genet. 1984 Nov; 36(6):1215-24.
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    363. Haskins ME, Desnick RJ, DiFerrante N, Jezyk PF, Patterson DF. Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res. 1984 Oct; 18(10):980-4.
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    364. Hermann G, Goldblatt J, Desnick RJ. Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher type 1 disease. Br J Radiol. 1984 Sep; 57(682):833-5.
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    365. Ginsberg H, Grabowski GA, Gibson JC, Fagerstrom R, Goldblatt J, Gilbert HS, Desnick RJ. Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease. Clin Genet. 1984 Aug; 26(2):109-16.
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    366. Mohandas T, Sparkes RS, Bishop DF, Desnick RJ, Shapiro LJ. Frequency of reactivation and variability in expression of X-linked enzyme loci. Am J Hum Genet. 1984 Jul; 36(4):916-25.
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    367. Grabowski GA, Gatt S, Kruse J, Desnick RJ. Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. Arch Biochem Biophys. 1984 May 15; 231(1):144-57.
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    368. Schuchman EH, Guzman NA, Desnick RJ. Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms. J Biol Chem. 1984 Mar 10; 259(5):3132-40.
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    369. Schuchman EH, Astrin KH, Aula P, Desnick RJ. Regional assignment of the structural gene for human alpha-L-iduronidase. Proc Natl Acad Sci U S A. 1984 Feb; 81(4):1169-73.
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    370. Dinur T, Grabowski GA, Desnick RJ, Gatt S. Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity. Anal Biochem. 1984 Jan; 136(1):223-34.
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    371. Fabbro D, Desnick RJ, Gatt S. Lysosomal beta-glucosidase of rat liver. Enzyme. 1984; 31(2):122-7.
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    372. Schuchman EH, Guzman NA, Takada G, Desnick RJ. Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms. Enzyme. 1984; 31(3):166-75.
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    373. Honig J, Martiniuk F, D'Eustachio P, Zamfirescu C, Desnick R, Hirschhorn K, Hirschhorn LR, Hirschhorn R. Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization. Ann Hum Genet. 1984 Jan; 48(Pt 1):49-56.
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    374. McGovern MM, Aula P, Desnick RJ. Purification and properties of human hepatic aspartylglucosaminidase. J Biol Chem. 1983 Sep 10; 258(17):10743-7.
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    375. Banks DE, Milutinovic J, Desnick RJ, Grabowski GA, Lapp NL, Boehlecke BA. Silicon nephropathy mimicking Fabry's disease. Am J Nephrol. 1983 Sep-Oct; 3(5):279-84.
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    376. Haskins ME, Aguirre GD, Jezyk PF, Desnick RJ, Patterson DF. The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol. 1983 Jul; 112(1):27-36.
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    377. Giampietro PF, Desnick RJ. Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assay. Anal Biochem. 1983 May; 131(1):83-92.
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    378. Conjalka MS, Cuttner J, Wisniewski L, Goldberg JD, Reisman A, Elliott R, Desnick R, Holland JF, Berk PD. Pretreatment marrow cytogenetic status: a predictor of response to remission induction therapy in acute myelogenous leukemia. Mt Sinai J Med. 1983 May-Jun; 50(3):201-7.
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    379. Onodera H, Takada G, Tada K, Desnick RJ. Microautoradiographic study on the tissue localization of liposome-entrapped or unentrapped 3H-labeled beta-galactosidase injected into rats. Tohoku J Exp Med. 1983 May; 140(1):1-13.
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    380. Martiniuk F, Smith M, Ellenbogen A, Desnick RJ, Astrin K, Mitra J, Hirschhorn R. Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. Cytogenet Cell Genet. 1983; 35(2):110-6.
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    381. Schweitzer LB, Desnick RJ. Inherited metabolic diseases: advances in delineation, diagnosis, and treatment. Birth Defects Orig Artic Ser. 1983; 19(5):39-71.
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    382. Rose JS, Grabowski GA, Barnett SH, Desnick RJ. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol. 1982 Dec; 139(6):1202-4.
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    383. McGovern MM, Vine DT, Haskins ME, Desnick RJ. Purification and properties of feline and human arylsulfatase B isozymes. Evidence for feline homodimeric and human monomeric structures. J Biol Chem. 1982 Nov 10; 257(21):12605-10.
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    384. Desnick RJ. Gaucher disease (1882-1982): centennial perspectives on the most prevalent Jewish genetic disease. Mt Sinai J Med. 1982 Nov-Dec; 49(6):443-55.
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    385. Guzelian PS, O'Connor L, Fernandez S, Chan W, Giampietro P, Desnick R. Rapid loss of delta-aminolevulinic acid dehydratase activity in primary cultures of adult rat hepatocytes: a new model of zinc deficiency. Life Sci. 1982 Sep 13; 31(11):1111-6.
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    386. Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. Clin Chim Acta. 1982 Sep 1; 124(1):123-35.
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    387. Astrin KH, Arredondo-Vega FX, Desnick RJ, Smith M. Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8. Ann Hum Genet. 1982 May; 46(Pt 2):125-33.
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    388. Riegel EM, Pokorny KS, Friedman AH, Suhan J, Ritch RH, Desnick RJ. Ocular pathology of Fabry's disease in a hemizygous male following renal transplantation. Surv Ophthalmol. 1982 Mar-Apr; 26(5):247-52.
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    389. Musarella MA, Raab EL, Rudolph SH, Grabowski GA, Desnick RJ. Oculomotor abnormalities in chronic GM2 gangliosidosis. J Pediatr Ophthalmol Strabismus. 1982 Mar-Apr; 19(2):80-9.
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    390. Vine DT, McGovern MM, Schuchman EH, Haskins ME, Desnick RJ. Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association. J Clin Invest. 1982 Feb; 69(2):294-302.
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    391. Darlington GJ, Astrin KH, Muirhead SP, Desnick RJ, Smith M. Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis. Proc Natl Acad Sci U S A. 1982 Feb; 79(3):870-3.
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    392. Haskins ME, Jezyk PF, Desnick RJ, McGovern MM, Vine DT, Patterson DF. Animal models of mucopolysaccharidosis. Prog Clin Biol Res. 1982; 94:177-201.
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    393. Devine EA, Beighton P, Petersen EM, Desnick RJ. Genetic heterogeneity in type I Gaucher disease. Prog Clin Biol Res. 1982; 95:495-510.
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    394. Bishop DF, Desnick RJ. Assays of the heme biosynthetic enzymes. Preface. Enzyme. 1982; 28(2-3):91-3.
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    395. Bishop DF, McBride L, Desnick RJ. Fluorometric coupled-enzyme assay for delta-aminolevulinate synthase. Enzyme. 1982; 28(2-3):94-108.
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    396. Rosenberg LE, Desnick RJ, Bach G, van Diggelen OP, d'Azzo A, Mueller OT, Wolf B, Kraus JP, Velazquez A, Berman M, Chemke J. Workshop on inborn errors of metabolism. Prog Clin Biol Res. 1982; 103 Pt B:223-9.
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    397. Grabowski GA, Dinur T, Gatt S, Desnick RJ. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. Prog Clin Biol Res. 1982; 95:573-95.
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    398. Gatt S, Dinur T, Desnick RJ. Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease. Prog Clin Biol Res. 1982; 95:315-31.
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    399. Farrow BR, Hartley WJ, Pollard AC, Fabbro D, Grabowski GA, Desnick RJ. Gaucher disease in the dog. Prog Clin Biol Res. 1982; 95:645-53.
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    400. Desnick RJ, Grabowski GA, Dinur T, Fabbro D, Goldblatt J, Gatt S. Gaucher disease: a membranous enzymopathy. Prog Clin Biol Res. 1982; 97:193-215.
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    401. Grabowski GA, Desnick RJ. Prenatal diagnosis of inherited metabolic diseases; principles, pitfalls, and prospects. Methods Cell Biol. 1982; 26:95-179.
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    402. Desnick RJ. Gaucher disease: a century of delineation and understanding. Prog Clin Biol Res. 1982; 95:1-30.
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    403. Desnick RJ, McGovern MM, Schuchman EH, Haskins ME. Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies. Prog Clin Biol Res. 1982; 94:27-65.
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    404. Devine EA, Smith M, Arredondo-Vega FX, Shafit-Zagardo B, Desnick RJ. Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1. Cytogenet Cell Genet. 1982; 33(4):340-4.
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    405. Pokorny KS, Ritch R, Friedman AH, Desnick RJ. Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). Invest Ophthalmol Vis Sci. 1982 Jan; 22(1):25-31.
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    406. Anderson PM, Desnick RJ. Porphobilinogen deaminase: methods and principles of the enzymatic assay. Enzyme. 1982; 28(2-3):146-57.
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    407. Devine EA, Smith M, Arredondo-Vega FX, Shafit-Zagardo B, Desnick RJ. Chromosomal localization of the gene for Gaucher disease. Prog Clin Biol Res. 1982; 95:511-34.
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    408. Lam KW, Desnick RJ. Biochemical properties of the tartrate-resistant acid phosphatase activity in Gaucher disease. Prog Clin Biol Res. 1982; 95:267-78.
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    409. Haskins ME, Jezyk PF, Desnick RJ, Patterson DF. Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat. Am J Pathol. 1981 Nov; 105(2):191-3.
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    410. Schuchman EH, Desnick RJ. A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans. Anal Biochem. 1981 Nov 1; 117(2):419-26.
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    411. Vine DT, McGovern MM, Haskins ME, Desnick RJ. Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity. Am J Hum Genet. 1981 Nov; 33(6):916-27.
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    412. Wang AL, Arredondo-Vega FX, Giampietro PF, Smith M, Anderson WF, Desnick RJ. Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc Natl Acad Sci U S A. 1981 Sep; 78(9):5734-8.
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    413. Lam KW, Li CY, Yam LT, Desnick RJ. Comparison of the tartrate-resistant acid phosphatase in Gaucher's disease and leukemic reticuloendotheliosis. Clin Biochem. 1981 Aug; 14(4):177-81.
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    414. Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ. Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology. 1981 Jul; 31(7):787-98.
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    415. Shafit-Zagardo B, Devine EA, Smith M, Arredondo-Vega F, Desnick RJ. Assignment of the gene for acid beta-glucosidase to human chromosome 1. Am J Hum Genet. 1981 Jul; 33(4):564-75.
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    416. Anderson PM, Reddy RM, Anderson KE, Desnick RJ. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest. 1981 Jul; 68(1):1-12.
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    417. Bishop DF, Devey KR, McBride L, Desnick RJ. Rapid determination of delta-aminolevulinate synthase activity by a specific fluorometric coupled enzyme assay. Anal Biochem. 1981 May 1; 113(1):68-78.
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    418. Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol. 1981 May; 103(2):247-62.
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    419. Bishop DF, Desnick RJ. Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. J Biol Chem. 1981 Feb 10; 256(3):1307-16.
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    420. Desnick RJ, Grabowski GA. Advances in the treatment of inherited metabolic diseases. Adv Hum Genet. 1981; 11:281-369.
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    421. Gatt S, Barenholz Y, Goldberg R, Dinur T, Besley G, Leibovitz-Ben Gershon Z, Rosenthal J, Desnick RJ, Devine EA, Shafit-Zagardo B, Tsuruki F. Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids. Methods Enzymol. 1981; 72:351-75.
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    422. McGovern MM, Vine DT, Haskins ME, Desnick RJ. An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency. Enzyme. 1981; 26(4):206-10.
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    423. Bass JL, Shrivastava S, Grabowski GA, Desnick RJ, Moller JH. The M-mode echocardiogram in Fabry's disease. Am Heart J. 1980 Dec; 100(6 Pt 1):807-12.
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    424. Shafit-Zagardo B, Devine EA, Desnick RJ. Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues. Biochim Biophys Acta. 1980 Aug 7; 614(2):459-65.
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    425. Fiddler MB, Hudson LD, White JG, Desnick RJ. Enzyme therapy XIV. Comparison of methods for enzyme entrapment in human erythrocytes. J Lab Clin Med. 1980 Aug; 96(2):307-17.
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    426. Wisniewski LP, Witt ME, Ginsberg-Fellner F, Wilner J, Desnick RJ. Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet. 1980 Jul; 18(1):42-7.
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    427. Plaitakis A, Nicklas WJ, Desnick RJ. Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome. Ann Neurol. 1980 Apr; 7(4):297-303.
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    428. Anderson PM, Desnick RJ. Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem. 1980 Mar 10; 255(5):1993-9.
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    429. Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC. Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease. Birth Defects Orig Artic Ser. 1980; 16(1):393-413.
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    430. Haskins ME, Jezyk PF, Desnick RJ, Patterson DF. Feline models of mucopolysaccharidosis. Birth Defects Orig Artic Ser. 1980; 16(1):219-24.
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    431. Grabowski GA, Ikonne JU, Desnick RJ. Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver. Enzyme. 1980; 25(1):13-25.
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    432. Bishop DF, Dean KJ, Sweeley CC, Desnick RJ. Purification and characterization of human alpha-galactosidase isozymes: comparison of tissue and plasma forms and evaluation of purification methods. Birth Defects Orig Artic Ser. 1980; 16(1):17-32.
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    433. Hudson LD, Fiddler MB, Desnick RJ. Immunologic aspects of enzyme replacement therapy. An evaluation of the immune response to unentrapped, erythrocyte- and liposome-entrapped enzyme in C3H/HeJ Gush mice. Birth Defects Orig Artic Ser. 1980; 16(1):163-78.
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    434. Grabowski GA, Walling L, Desnick RJ. Human mannosidosis: in vitro and in vivo studies of cofactor supplementation. Birth Defects Orig Artic Ser. 1980; 16(1):319-34.
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    435. Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr Res. 1979 Nov; 13(11):1294-7.
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    436. Desnick RJ, Dean KJ, Grabowski G, Bishop DF, Sweeley CC. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc Natl Acad Sci U S A. 1979 Oct; 76(10):5326-30.
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    437. Shapiro LJ, Aleck KA, Kaback MM, Itabashi H, Desnick RJ, Brand N, Stevens RL, Fluharty AL, Kihara H. Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res. 1979 Oct; 13(10):1179-81.
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    438. Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. J Am Vet Med Assoc. 1979 Aug 15; 175(4):384-7.
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    439. Anderson PM, Desnick RJ. Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes. J Biol Chem. 1979 Aug 10; 254(15):6924-30.
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    440. Fleisher LD, Rassin DK, Desnick RJ, Salwen HR, Rogers P, Bean M, Gaull GE. Argininosuccinic aciduria: prenatal studies in a family at risk. Am J Hum Genet. 1979 Jul; 31(4):439-45.
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    441. Rassin DK, Fleisher LD, Muir A, Desnick RJ, Gaull GE. Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". Clin Chim Acta. 1979 Jun 1; 94(2):101-8.
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    442. Carlson EA, Letson RD, Ramsay NK, Desnick RJ. Factors for improved genetic counseling for retinoblastoma based on a survey of 55 families. Am J Ophthalmol. 1979 Apr; 87(4):449-59.
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    443. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol. 1979 Apr; 97(4):671-6.
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    444. Hudson LD, Fiddler MB, Desnick RJ. Enzyme therapy. X. Immune response induced by enzyme- and buffer-loaded liposomes in C3H/HeJ Gus(h) mice. J Pharmacol Exp Ther. 1979 Mar; 208(3):507-14.
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    445. Jolly RD, Desnick RJ. Inborn errors of lysosomal catabolism--principles of heterozygote detection. Am J Med Genet. 1979; 4(3):293-307.
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    446. Carlson EA, Desnick RJ. Mutational mosaicism and genetic counseling in retinoblastoma. Am J Med Genet. 1979; 4(4):365-81.
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    447. Plaitakis A, Nicklas WJ, Desnick RJ. Glutamate dehydrogenase deficiency in three patients with spinocerebellar ataxia: a new enzymatic defect? Trans Am Neurol Assoc. 1979; 104:54-7.
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    448. Chen KT, McKenna RW, Desnick RJ. Acute myelogenous leukaemia in Hurler's syndrome. J Med Genet. 1978 Jun; 15(3):239-42.
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    449. Matas AJ, Desnick RJ, Najarian JS, Simmons RL. Clinical and experimental transplantation in enzymatic deficiency disease. Surg Gynecol Obstet. 1978 Jun; 146(6):975-82.
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    450. Sher NA, Reiff W, Letson RD, Desnick RJ. Central retinal artery occlusion complicating Fabry's disease. Arch Ophthalmol. 1978 May; 96(5):815-7.
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    451. Mehta J, Desnick RJ. Abbreviated PR interval in mannosidosis. J Pediatr. 1978 Apr; 92(4):599-601.
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    452. Letson RD, Desnick RJ. Punctate lenticular opacities in type II mannosidosis. Am J Ophthalmol. 1978 Feb; 85(2):218-24.
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    453. Johnson DL, Desnick RJ. Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells. Biochim Biophys Acta. 1978 Jan 18; 538(2):195-204.
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    454. Thorpe SR, Desnick RJ. Enzyme therapy--IX. Stabilization of human splenic alpha-galactosidase a by zinc ion. Int J Biochem. 1978; 9(2):103-5.
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    455. Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic observations in Fabry's disease. Adv Cardiol. 1978; 21:220-2.
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    456. Desnick RJ, Fiddler MB, Douglas SD, Hudson LD. Enzyme therapy XI: immunologic considerations for replacement therapy with unentrapped, erythrocyte- and liposome-entrapped enzymes. Adv Exp Med Biol. 1978; 101:753-64.
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    457. Fiddler MB, Hudson LD, Desnick RJ. Immunological evaluation of repeated administration of erythrocyte-entrapped protein to C3H/HeJ mice. Biochem J. 1977 Nov 15; 168(2):141-5.
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    458. Sung JH, Hayano M, Desnick RJ. Mannosidosis: pathology of the nervous system. J Neuropathol Exp Neurol. 1977 Sep-Oct; 36(5):807-20.
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    459. Mehta J, Tuna N, Moller JH, Desnick RJ. Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am Heart J. 1977 Jun; 93(6):699-705.
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    460. Goldberg JD, Truex JH, Desnick RJ. Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay. Clin Chim Acta. 1977 May 16; 77(1):43-52.
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    461. Fiddler MB, Desnick RJ. Enzyme therapy. Differential in vivo retention of bovine hepatic, renal, and splenic beta-glucuronidases and evidence for enzyme stabilization by intermolecular exchange. Arch Biochem Biophys. 1977 Mar; 179(2):397-408.
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    462. Steger LD, Desnick RJ. Enzyme therapy. VI: Comparative in vivo fates and effects on lysosomal integrity of enzyme entrapped in negatively and positively charged liposomes. Biochim Biophys Acta. 1977 Feb 4; 464(3):530-46.
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    463. Desnick RJ, Goldberg JD. Tay-Sachs disease: prospects for therapeutic intervention. Prog Clin Biol Res. 1977; 18:129-41.
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    464. Desnick RJ, Truex JH, Goldberg JD. A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. Prog Clin Biol Res. 1977; 18:245-65.
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    465. Desnick RJ, Sharp HL, Grabowski GA, Brunning RD, Quie PG, Sung JH, Gorlin RJ, Ikonne JU. Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res. 1976 Dec; 10(12):985-96.
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    466. Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH. Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation. 1976 Nov; 54(5):818-25.
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    467. Brown DM, Bradford DS, Gorlin RJ, Desnick RJ, Langer LO, Jowsey J, Sauk JJ. The acro-osteolysis syndrome: Morphologic and biochemical studies. J Pediatr. 1976 Apr; 88(4 Pt 1):573-80.
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    468. Desnick RJ, Walling LL, Anderson PM, Raman MK, Sharp HL, Ikonne JU. Mannosidosis: studies of the alpha-D-mannosidase isozymes in health and disease. Adv Exp Med Biol. 1976; 68:277-99.
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    469. Desnick RJ, Thorpe SR, Fiddler MB. Toward enzyme therapy for lysosomal storage diseases. Physiol Rev. 1976 Jan; 56(1):57-99.
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    470. Del Monte MA, Johnson DL, Cotlier E, Desnick RJ. Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease. Birth Defects Orig Artic Ser. 1976; 12(3):209-19.
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    471. Martin JJ, Leroy JG, Farriaux JP, Fontaine G, Desnick RJ, Cabello A. I-cell disease (mucolipidosis II):a report on its pathology. Acta Neuropathol. 1975 Dec 30; 33(4):285-305.
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    472. Thorpe SR, Fiddler MB, Desnick RJ. Enzyme therapy. V. In vivo fate of erythrocyte-entrapped beta-glucuronidase in beta-glucuronidase-deficient mice. Pediatr Res. 1975 Dec; 9(12):918-23.
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    473. Ikonne JU, Rattazzi MC, Desnick RJ. Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet. 1975 Sep; 27(5):639-50.
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    474. Johnson DL, Del Monte MA, Cotlier E, Desnick RJ. Fabry disease: diagnosis by alpha-galactosidase activities in tears. Clin Chim Acta. 1975 Aug 18; 63(1):81-90.
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    475. Najarian JS, Desnick RJ, Simmons RL, Krivit W. Correction of enzymatic deficiencies by renal transplantation: fabry's disease. Bull Soc Int Chir. 1975; 34(1):1-10.
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    476. Thorpe SR, Fiddler MB, Desnick RJ. Enzyme therapy IV. A method for determining the in vivo fate of bovine beta-glucuronidase in beta-glucuronidase deficient mice. Biochem Biophys Res Commun. 1974 Dec 23; 61(4):1464-70.
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    477. Blieden LC, Desnick RJ, Carter JB, Krivit W, Moller JH, Sharp HL. Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism. Am J Cardiol. 1974 Jul; 34(1):83-8.
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    478. Snyder PD, Wold F, Bernlohr RW, Dullum C, Desnick RJ, Krivit W, Condie RM. Enzyme therapy. II. Purified human alpha-galactosidase A. Stabilization to heat and protease degradation by complexing with antibody and by chemical modification. Biochim Biophys Acta. 1974 Jun 18; 350(2):432-6.
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    479. Del Monte MA, Johnson DL, Cotlier E, Krivit W, Desnick RJ. Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A. N Engl J Med. 1974 Jan 3; 290(1):57-8.
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    480. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology. 1973 Aug; 23(8):871-5.
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    481. Desnick RJ, Krivit W, Sharp HL. In utero diagnosis of Sandhoff's disease. Biochem Biophys Res Commun. 1973 Mar 5; 51(1):20-4.
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    482. Krivit W, Bernlohr RW, Desnick RJ. Enzyme replacement in genetic disease. Prospectus. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):232-3.
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    483. Desnick SJ, Desnick RJ, Brady RO, Pentchev PG, Simmons RL, Najarian JS, Swaiman K, Sharp HL, Krivit W. Renal transplantation in Type II Gaucher disease. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):109-19.
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    484. Desnick RJ, Allen KY, Simmons RL, Woods JE, Anderson CF, Najarian JS, Krivit W. Fabry disease: correction of the enzymatic deficiency by renal transplantation. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):88-96.
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    485. Johnson WG, Desnick RJ, Long DM, Sharp HL, Krivit W, Brady B, Brady RO. Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):120-4.
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    486. Desnick RJ, Bernlohr RW, Krivit W. Enzyme therapy in genetic diseases. Preface. Birth Defects Orig Artic Ser. 1973 Mar; 9(2):viii-x.
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    487. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 1973 Feb; 81(2):157-71.
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    488. Desnick RJ, Bernlohr RW, Krivit W. Enzyme therapy for inborn errors of metabolism. Postgrad Med. 1973 Jan; 53(1):214-6.
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    489. Krivit W, Desnick RJ, Bernlohr RW, Wold F, Najarian JS, Simmons RL. Enzyme transplantation in Fabry's disease. N Engl J Med. 1972 Dec 14; 287(24):1248-9.
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    490. Desnick SJ, Witkop CJ, Krivit W, Thies JK, Desnick RJ. Fabry's disease (ceramide trihexosidase deficiency): diagnostic confirmation by analysis of dental pulp. Arch Oral Biol. 1972 Oct; 17(10):1473-9.
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    491. Desnick RJ, Simmons RL, Allen KY, Woods JE, Anderson CF, Najarian JS, Krivit W. Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery. 1972 Aug; 72(2):203-11.
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    492. Krivit W, Desnick RJ, Lee J, Moller J, Wright F, Sweeley CC, Snyder PD, Sharp HL. Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). Am J Med. 1972 Jun; 52(6):763-70.
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    493. Snyder PD, Desnick RJ, Krivit W. The glycosphingolipids and glycosyl hydrolases of human blood platelets. Biochem Biophys Res Commun. 1972 Mar 10; 46(5):1857-65.
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    494. Desnick RJ, Raman M, Allen KY, Desnick SJ, Simmons RL, Anderson CF, Woods JE, Najarian JS, Krivit W. Enzyme therapy in Fabry's disease by renal transplantation. Proc Clin Dial Transplant Forum. 1972; 2:27-35.
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    495. Sharp HL, Desnick RJ, Krivit W. The liver in inherited metabolic diseases of childhood. Prog Liver Dis. 1972; 4:463-88.
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    496. Desnick RJ, Allen KY, Simmons RL, Najarian JS, Krivit W. Treatment of Fabry's disease: correction of the enzymatic deficiency by renal transplantation. J Lab Clin Med. 1971 Dec; 78(6):989-90.
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    497. Suzuki K, Suzuki Y, Desnick RJ, Desnick SJ, Dawson G. Urinary screening of globoid-cell leukodystrophy. N Engl J Med. 1971 Jul 22; 285(4):238-9.
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    498. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W. Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med. 1971 Apr 8; 284(14):739-44.
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    499. Mapes CA, Anderson RL, Sweeley CC, Desnick RJ, Krivit W. Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science. 1970 Sep 4; 169(3949):987-9.
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    500. Krivit W, Desnick RJ, Mapes C, Anderson RL, Sweeley CC. Recent advances in Fabry's disease. Trans Assoc Am Physicians. 1970; 83:121-32.
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    501. Desnick RJ, Sweeley CC, Krivit W. A method for the quantitative determination of neutral glycosphingolipids in urine sediment. J Lipid Res. 1970 Jan; 11(1):31-7.
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