Associated Papers
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Beerepoot S et al.
Journal of Inherited Metabolic Disease, 2025
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.
Human 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
Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series.
Riedel A et al.
Blood Advances, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
A systematic review on the birth prevalence of metachromatic leukodystrophy.
Chang SC et al.
Orphanet Journal of Rare Diseases, 2024
Metachromatic leukodystrophy: To screen or not to screen?
Jonckheere AI et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
Association of rare variants in ARSA with Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Santhanakumaran V et al.
Molecular Genetics and Metabolism, 2023
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
Laugwitz L et al.
Jimd Reports, 2022
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.
Fumagalli F et al.
Journal of Inherited Metabolic Disease, 2021
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.
Mingbunjerdsuk D et al.
Journal of Child Neurology, 2021
Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy.
Meier K et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 2021
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S et al.
Neurogenetics, 2020
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Beerepoot S et al.
Orphanet Journal of Rare Diseases, 2019
Arylsulfatases A and B: From normal tissues to malignant tumors.
Kovacs Z et al.
Pathology, Research and Practice, 2019
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S et al.
Orphanet Journal of Rare Diseases, 2019
A closer look at ARSA activity in a patient with metachromatic leukodystrophy.
Doherty K et al.
Molecular Genetics and Metabolism Reports, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.
Issa AB et al.
Journal of Molecular Neuroscience : Mn, 2018
Recon3D enables a three-dimensional view of gene variation in human metabolism.
Brunk E et al.
Nature Biotechnology, 2018
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Böhringer J et al.
Human Mutation, 2017
Impact of genetic variation on three dimensional structure and function of proteins.
Bhattacharya R et al.
Plos One, 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
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
Han M et al.
Annals of Laboratory Medicine, 2015
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Solders M et al.
Bone Marrow Transplantation, 2014