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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 kinds of deficiencies based on ASA activity determination is difficult and unreliable. This creates a serious problem in...

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Identifiers

PMID: 1671769
DOI: 10.1007/BF00202403

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

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

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 ↗

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.Semantic proximity Read ↗

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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Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

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