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Article

[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].

TSitologiia i genetika - 1 Jan 2000

Horovenko N H, Ol'khovych N V, Pichkur N O

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an inherited storage disease caused by deficiency of arylsulfatase A (ARSA). Molecular analysis of the major mutations in the ARSA gene was performed in 10 Ukrainian patients (from 9 families) with MLD. According to the age of onset, late infantile MLD was identified in 3 patients, juvenile MLD in 5 patients, and adult MLD in 2 patients (sibs), respectively. The ARSA activity...

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Source

Identifiers

PMID: 12442547

Genes

ARSA

Provenance

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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