Balwani M - Search Results

1

Dersimelagon in Erythropoietic Protoporphyrias.

Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators. Balwani M, et al. N Engl J Med. 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. N Engl J Med. 2023. PMID: 37043653 Clinical Trial.

2

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.

Surface M, Balwani M, Waters C, Haimovich A, Gan-Or Z, Marder KS, Hsieh T, Song L, Padmanabhan S, Hsieh F, Merchant KM, Alcalay RN. Surface M, et al. Among authors: balwani m. Mov Disord. 2022 Feb;37(2):416-421. doi: 10.1002/mds.28846. Epub 2021 Nov 6. Mov Disord. 2022. PMID: 34741486 Free PMC article.

3

Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group.

Kohli R, Ratziu V, Fiel MI, Waldmann E, Wilson DP, Balwani M. Kohli R, et al. Among authors: balwani m. Mol Genet Metab. 2020 Feb;129(2):59-66. doi: 10.1016/j.ymgme.2019.11.004. Epub 2019 Nov 18. Mol Genet Metab. 2020. PMID: 31767214 Free article. Review.

4

Reply to: "Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations"?

Surface M, Balwani M, Waters C, Haimovich A, Gan-Or Z, Marder KS, Hsieh T, Song L, Padmanabhan S, Hsieh F, Merchant KM, Alcalay RN. Surface M, et al. Among authors: balwani m. Mov Disord. 2022 Aug;37(8):1782. doi: 10.1002/mds.29136. Mov Disord. 2022. PMID: 35980035 No abstract available.

5

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.

Kishnani PS, Al-Hertani W, Balwani M, Göker-Alpan Ö, Lau HA, Wasserstein M, Weinreb NJ, Grabowski G. Kishnani PS, et al. Among authors: balwani m. Mol Genet Metab. 2022 Feb;135(2):154-162. doi: 10.1016/j.ymgme.2021.12.009. Epub 2021 Dec 22. Mol Genet Metab. 2022. PMID: 34972655 Free article.

6

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.

Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ. Rosenbloom B, et al. Among authors: balwani m. Blood Cells Mol Dis. 2011 Jan 15;46(1):95-102. doi: 10.1016/j.bcmd.2010.10.006. Epub 2010 Nov 10. Blood Cells Mol Dis. 2011. PMID: 21067946 Free PMC article.

7

JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease.

Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M. Webb BD, et al. Among authors: balwani m. Blood Cells Mol Dis. 2011 Jan 15;46(1):103-4. doi: 10.1016/j.bcmd.2010.09.007. Epub 2010 Oct 23. Blood Cells Mol Dis. 2011. PMID: 20971662 No abstract available.

8

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, Nichols W, Rana HQ, Balwani M, Bier L, Elstein D, Zimran A. Alcalay RN, et al. Among authors: balwani m. JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313. JAMA Neurol. 2014. PMID: 24756352 Free PMC article.

9

A case report of secondary autograft failure due to Gaucher disease.

Carreiro J, Balwani M, Grosskreutz C, Isola L, Malone A, Scigliano E, Osman K. Carreiro J, et al. Among authors: balwani m. Am J Hematol. 2008 Dec;83(12):937. doi: 10.1002/ajh.21278. Am J Hematol. 2008. PMID: 18803277 Free article. No abstract available.

10

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K. Sansaricq C, et al. Among authors: balwani m. J Inherit Metab Dis. 2006 Feb;29(1):203-4. doi: 10.1007/s10545-006-0175-5. J Inherit Metab Dis. 2006. PMID: 16601893

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