Balwani M - Search Results

1

The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.

Zeid N, Stauffer C, Yang A, Naik H, Fierro L, Ganesh J, Balwani M. Zeid N, et al. Among authors: balwani m. Mol Genet Metab Rep. 2020 Jan 30;22:100567. doi: 10.1016/j.ymgmr.2020.100567. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 32042592 Free PMC article.

2

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. Brancaleoni V, et al. Among authors: balwani m. Clin Genet. 2016 Jan;89(1):20-6. doi: 10.1111/cge.12562. Epub 2015 Feb 17. Clin Genet. 2016. PMID: 25615817 Free PMC article.

3

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: balwani m. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.

4

Afamelanotide for Erythropoietic Protoporphyria.

Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, Bloomer J, Edwards C, Neumann NJ, Parker C, Phillips JD, Lim HW, Hamzavi I, Deybach JC, Kauppinen R, Rhodes LE, Frank J, Murphy GM, Karstens FPJ, Sijbrands EJG, de Rooij FWM, Lebwohl M, Naik H, Goding CR, Wilson JHP, Desnick RJ. Langendonk JG, et al. Among authors: balwani m. N Engl J Med. 2015 Jul 2;373(1):48-59. doi: 10.1056/NEJMoa1411481. N Engl J Med. 2015. PMID: 26132941 Free PMC article. Clinical Trial.

5

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Balwani M, et al. Mol Genet Metab. 2016 Feb;117(2):95-103. doi: 10.1016/j.ymgme.2015.09.002. Epub 2015 Sep 7. Mol Genet Metab. 2016. PMID: 26387627 Free article. Review.

6

Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

Gou EW, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal AK, Wang B, Keel S, Anderson KE. Gou EW, et al. Among authors: balwani m. Clin Chem. 2015 Dec;61(12):1453-6. doi: 10.1373/clinchem.2015.245456. Epub 2015 Oct 19. Clin Chem. 2015. PMID: 26482161 Free PMC article.

7

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.

Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ. Naik H, et al. Among authors: balwani m. Mol Genet Metab. 2016 Nov;119(3):278-283. doi: 10.1016/j.ymgme.2016.08.006. Epub 2016 Aug 24. Mol Genet Metab. 2016. PMID: 27595545 Free PMC article.

8

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Yang AC, Bier L, Overbey JR, Cohen-Pfeffer J, Desai K, Desnick RJ, Balwani M. Yang AC, et al. Among authors: balwani m. Genet Med. 2017 Jun;19(6):652-658. doi: 10.1038/gim.2016.159. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735925 Free article.

9

Acute Intermittent Porphyria in children: A case report and review of the literature.

Balwani M, Singh P, Seth A, Debnath EM, Naik H, Doheny D, Chen B, Yasuda M, Desnick RJ. Balwani M, et al. Mol Genet Metab. 2016 Dec;119(4):295-299. doi: 10.1016/j.ymgme.2016.10.005. Epub 2016 Oct 15. Mol Genet Metab. 2016. PMID: 27769855 Free PMC article. Review.

10

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.

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