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Article

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.

Human genetics - 1 Jan 1991

Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). A substantial ASA deficiency has also been described in clinically healthy persons, a condition for which the term pseudodeficiency was introduced. The discrimination of both kind...

Topics

Alleles
Base Sequence
Cerebroside-Sulfatase
Genetic Counseling
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Polymerase Chain Reaction
Reference Values

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1671769
DOI: 10.1007/BF00202403

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1671769-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.PMID 1671769Read ↗

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Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.Semantic proximity Read ↗

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Diagnosis of arylsulfatase A deficiency.Semantic proximity Read ↗

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Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.Semantic proximity Read ↗

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.Semantic proximity Read ↗

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