Associated Papers
Prosaposin in CNS health and disease, metabolic stress and exercise adaptation.
Taha HB et al.
Journal of Molecular Medicine (berlin, Germany), 2026
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
Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.
Yoldas Celik M et al.
Journal of Child Neurology, 2025
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
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
Sheth J et al.
Jimd Reports, 2023
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 2018
30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx
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