Balwani M - Search Results

1

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Balwani M, et al. JAMA Dermatol. 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557. JAMA Dermatol. 2017. PMID: 28614581 Free PMC article.

2

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ. Grace ME, et al. Among authors: balwani m. Hum Mutat. 2007 Sep;28(9):866-73. doi: 10.1002/humu.20524. Hum Mutat. 2007. PMID: 17464953

3

Use of complementary and alternative medicine by patients with lysosomal storage diseases.

Balwani M, Fuerstman L, Desnick RJ, Buckley B, McGovern MM. Balwani M, et al. Genet Med. 2009 Oct;11(10):722-7. doi: 10.1097/GIM.0b013e3181b182c3. Genet Med. 2009. PMID: 19745751 Free article.

4

Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Cantatore-Francis JL, et al. Among authors: balwani m. Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89. Arch Dermatol. 2010. PMID: 20479301 Free PMC article.

5

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.

Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Balwani M, et al. Arch Intern Med. 2010 Sep 13;170(16):1463-9. doi: 10.1001/archinternmed.2010.302. Arch Intern Med. 2010. PMID: 20837833 Free PMC article.

6

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

Balwani M, Grace ME, Desnick RJ. Balwani M, et al. J Inherit Metab Dis. 2011 Jun;34(3):789-93. doi: 10.1007/s10545-011-9307-7. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431620 Free PMC article.

7

A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.

Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. Zhang J, et al. Among authors: balwani m. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Aug 15;879(24):2389-96. doi: 10.1016/j.jchromb.2011.06.034. Epub 2011 Jul 6. J Chromatogr B Analyt Technol Biomed Life Sci. 2011. PMID: 21783436 Free PMC article.

8

The porphyrias: advances in diagnosis and treatment.

Balwani M, Desnick RJ. Balwani M, et al. Blood. 2012 Nov 29;120(23):4496-504. doi: 10.1182/blood-2012-05-423186. Epub 2012 Jul 12. Blood. 2012. PMID: 22791288 Free PMC article. Review.

9

The porphyrias: advances in diagnosis and treatment.

Balwani M, Desnick RJ. Balwani M, et al. Hematology Am Soc Hematol Educ Program. 2012;2012:19-27. doi: 10.1182/asheducation-2012.1.19. Hematology Am Soc Hematol Educ Program. 2012. PMID: 23233556 Review.

10

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.

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; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.

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