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List of works by Jayesh Sheth

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

scientific article published on 01 October 2018

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review

scientific article

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

article

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family ⬇️

scientific article published on October 30, 2012

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

scientific article published on 04 July 2018

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.

scientific article

Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

article

Treatment for Lysosomal Storage Disorders

scientific article published on 15 October 2020

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