Associated Papers
Juvenile metachromatic leukodystrophy caused by a rare genetic mutation.
Dos Santos Ferreira MCA et al.
Neurogenetics, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
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
Chorea in Hereditary Leukodystrophies - Overview of Two Cases.
Milovanović A et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 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
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease.
Hertz E et al.
Journal of Movement Disorders, 2023
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
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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy.
Wang BL et al.
Frontiers in Neurology, 2022
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.
Fumagalli F et al.
Journal of Inherited Metabolic Disease, 2021
Adult Hereditary White Matter Diseases With Psychiatric Presentation: Clinical Pointers and MRI Algorithm to Guide the Diagnostic Process.
Costei C et al.
The Journal of Neuropsychiatry and Clinical Neurosciences, 2021
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Pekgül F et al.
Molecular Genetics and Metabolism Reports, 2020
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S et al.
Neurogenetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
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
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
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Stoeck K et al.
Journal of Alzheimer's Disease : Jad, 2016
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Solders M et al.
Bone Marrow Transplantation, 2014