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
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
Li D et al.
Prenatal Diagnosis, 2018
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Böhringer J et al.
Human Mutation, 2017
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.
Sessa M et al.
Lancet (london, England), 2016
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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