Associated Papers
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.
Şimşek L et al.
Psychiatric Genetics, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S et al.
Biorxiv : the Preprint Server for Biology, 2024
38798479 (PubMed )
Supplement: media-2.xlsx › Table_S1_-_activity___pred
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_MOESM3_ESM.xlsx › Table_S3
Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy.
Wang BL et al.
Frontiers in Neurology, 2022
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