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Article

Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.

Genome biology - 21 Jul 2023

Trinidad Marena, Hong Xinying, Froelich Steven, Daiker Jessica, Sacco James, Nguyen Hong Phuc, Campagna Madelynn, Suhr Dean, Suhr Teryn, LeBowitz Jonathan H, Gelb Michael H, Clark Wyatt T

Abstract excerpt

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants remains unknown; better understanding of the genotype-phenotype relationship is required to support newborn screening (NBS) and guide treatment. RESULTS: We collected a patient...

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Identifiers

PMID: 37480112
DOI: 10.1186/s13059-023-03001-z
PMCID: PMC10360315

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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