Associated Papers
Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.
Fathi M et al.
Biochemical Genetics, 2026
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
36993451 (PubMed )
Supplement: media-1.xlsx › S_tabl4_McGill_cohorts
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
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
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Hong X et al.
Analytical Chemistry, 2020
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S et al.
Orphanet Journal of Rare Diseases, 2019
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Böhringer J et al.
Human Mutation, 2017
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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