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
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S et al.
Orphanet Journal of Rare Diseases, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan DL et al.
Journal of Human Genetics, 2019
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
Shukla P et al.
Journal of the Neurological Sciences, 2011
Select a paper to view details