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
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot.
Sahoo LK et al.
Neurology, 2023
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