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Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.

Clinical biochemistry - 1 Mar 2021

Thomas Divya C, Sharma Sandeepika, Puri Ratna D, Verma I C, Verma Jyotsna

Abstract excerpt

OBJECTIVES: Diagnosis of lysosomal storage disorders (LSDs) remains challenging due to wide clinical, biochemical and molecular heterogeneity. The study applies a combined biochemical and genetic approach to diagnose symptomatic Indian patients of Pompe, Fabry, Gaucher and Hurler disease to generate a comprehensive dataset of pathogenic variants for these disorders. DESIGN & METHODS: Symptomatic patients were...

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PMID: 33301762
DOI: 10.1016/j.clinbiochem.2020.12.002

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