Associated Papers
Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.
Kumar S et al.
Digestive Diseases and Sciences, 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
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_MOESM3_ESM.xlsx › Table_S3
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Beerepoot S et al.
Orphanet Journal of Rare Diseases, 2019
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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