Associated Papers
Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.
Zhang Z et al.
Protein & Cell, 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
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Undiagnosed Metachromatic Leukodystrophy Presenting as Severe Gastrointestinal Bleeding and Cholestasis from Hemobilia.
Stevens JP et al.
Jpgn Reports, 2021
Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.
Guo L et al.
Molecular Genetics & Genomic Medicine, 2020
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan DL et al.
Journal of Human Genetics, 2019
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
Chen L et al.
International Journal of Genomics, 2018
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
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P et al.
Gene, 2013
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