Associated Papers
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_MOESM1_ESM.xlsx › Table_S1
Association of rare variants in ARSA with Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Amr K et al.
Journal of Molecular Neuroscience : Mn, 2021
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
Liaw HR et al.
Orphanet Journal of Rare Diseases, 2015
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