Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 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
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy.
Metelmann M et al.
Case Reports in Psychiatry, 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
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 genetic variant in a patient with juvenile meterochromic leukodystrophy].
Zhang X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S et al.
Neurogenetics, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
Chen L et al.
International Journal of Genomics, 2018
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016