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Article

Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.

American journal of medical genetics. Part A - 1 Sept 2004

Berná Linda, Gieselmann Volkmar, Poupetová Helena, Hrebícek Martin, Elleder Milan, Ledvinová Jana

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an inherited demyelinating disorder caused by the deficiency of arylsulphatase A (ASA). This defect leads to an accumulation of galactosylceramide I(3)-sulphates (sulphatides) in lysosomes of different tissues. We report on mutations found in a group of nine patients from the Czech and Slovak Republics (former Czechoslovakia). Their diagnosis was confirmed by determination of...

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Identifiers

PMID: 15326627
DOI: 10.1002/ajmg.a.30118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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