Associated Papers
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
Li T et al.
Metabolic Brain Disease, 2024
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
Select a paper to view details