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Article

Molecular genetics of metachromatic leukodystrophy.

Developmental neuroscience - 1 Jan 1991

Gieselmann V, Polten A, Kreysing J, Kappler J, Fluharty A, von Figura K

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA). The ASA cDNA as well as the gene has been cloned. The gene is about 3 kb long and consists of 8 exons. The two most frequent alleles causing MLD have been characterized and the distribution of these alleles among patients with different clinical forms of MLD has revealed a simple genotype-phenotype...

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Identifiers

PMID: 1687778
DOI: 10.1159/000112164

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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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