Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D et al.
Human Mutation, 2021
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P et al.
American Journal of Medical Genetics. Part A, 2016
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