Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
41593770 (PubMed )
Supplement: 13023_2026_4195_MOESM3_ESM.xlsx › Enzyme_and_molecular_data
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
37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1
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
Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33495530 (PubMed )
Supplement: 41436_2020_1092_MOESM1_ESM.pdf
Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.
Guo L et al.
Molecular Genetics & Genomic Medicine, 2020
Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Hettiarachchi D et al.
Bmc Research Notes, 2020
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Hettiarachchi D et al.
Bmc Research Notes, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
Liaw HR et al.
Orphanet Journal of Rare Diseases, 2015
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