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

•Novel variants in a large cohort of Indian Pompe, Fabry, Gaucher & Hurler patients.•Frequent Indian mutations in the above LSDs.•Status of residual enzyme activity in these patients.•Phenotypic spectrum consistent with the multi-systemic nature of the disorders.•Results will aid diagnosis, trea...

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