Associated Papers
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
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
Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.
Guo L et al.
Molecular Genetics & Genomic Medicine, 2020
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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