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Article

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.

European neurology - 1 Aug 1998

Tylki-Szymańska A T, Czartoryska B, Lugowska A

Abstract excerpt

Metachromatic leukodystrophy (MLD) is one of the most severe genetically determined demyelination diseases. It is caused by a deficit in the activity of sulfatide sulfatase. The diagnosis is made by demonstrating a deficiency of arylsulfatase A (ASA) activity in leukocytes or cultured skin fibroblasts. Diagnosis based only on the activity of ASA is complicated by the fact that there exists a condition of ASA...

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PMID: 9693234
DOI: 10.1159/000007960

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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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