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Manisha Balwani

TitleASSISTANT PROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
Address1184 Fifth Avenue, 2nd Floor
Gaucher and Porphyria Disease patients only
New York NY 10029
Phone212-241-0915
    Other Positions
    TitleASSISTANT PROFESSOR
    InstitutionMount Sinai
    DepartmentMedicine


     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. Kute VB, Patel HV, Vanikar AV, Shah PR, Gumber MR, Balwani MR, Trivedi HL. Meningioma in long-term survivor after renal transplantation. Indian J Nephrol. 2013 Sep; 23(5):393-4.
      View in: PubMed
    2. Kute VB, Vanikar AV, Gumber MR, Trivedi VB, Shah PR, Patel HV, Balwani MR, Modi PR, Trivedi HL. Kidney transplantation with positive complement-dependent lymphocytotoxicity crossmatch with negative flow crossmatching and Luminexx donor-specific antibodies. Ren Fail. 2013 Aug; 35(7):1027-30.
      View in: PubMed
    3. Kute VB, shrimali JD, Balwani MR, Godhani UR, Vanikar AV, Shah PR, Gumber MR, Patel HV, Trivedi HL. Lead nephropathy due to Sindoor in India. Ren Fail. 2013 Jul; 35(6):885-7.
      View in: PubMed
    4. Gumber MR, Kute VB, Shah PR, Vanikar AV, Patel HV, Balwani MR, Ghuge PP, Trivedi HL. Successful treatment of severe iron intoxication with gastrointestinal decontamination, deferoxamine, and hemodialysis. Ren Fail. 2013; 35(5):729-31.
      View in: PubMed
    5. 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
    6. Balwani M, Breen C, Enns GM, Deegan PB, Honzík T, Jones S, Kane JP, Malinova V, Sharma R, Stock EO, Valayannopoulos V, Wraith JE, Burg J, Eckert S, Schneider E, Quinn AG. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology. 2013 Sep; 58(3):950-7.
      View in: PubMed
    7. Rana HQ, Balwani M, Bier L, Alcalay RN. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med. 2013 Feb; 15(2):146-9.
      View in: PubMed
    8. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29; 120(23):4496-504.
      View in: PubMed
    9. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology Am Soc Hematol Educ Program. 2012; 2012:19-27.
      View in: PubMed
    10. 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.
      View in: PubMed
    11. 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.
      View in: PubMed
    12. 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.
      View in: PubMed
    13. Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis. 2011 Jan 15; 46(1):95-102.
      View in: PubMed
    14. Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M. JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood Cells Mol Dis. 2011 Jan 15; 46(1):103-4.
      View in: PubMed
    15. 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.
      View in: PubMed
    16. 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.
      View in: PubMed
    17. 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.
      View in: PubMed
    18. Carreiro J, Balwani M, Grosskreutz C, Isola L, Malone A, Scigliano E, Osman K. A case report of secondary autograft failure due to Gaucher disease. Am J Hematol. 2008 Dec; 83(12):937.
      View in: PubMed
    19. 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.
      View in: PubMed
    20. Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K. Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family. J Inherit Metab Dis. 2006 Feb; 29(1):203-4.
      View in: PubMed
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    Mount Sinai Profiles is managed by Conduits - The Institutes for Translational Sciences at Icahn School of Medicine, supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health through Grant Number UL1TR000067