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
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
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