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Article

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.

American journal of medical genetics - 1 Mar 1993

Shen N, Li Z G, Waye J S, Francis G, Chang P L

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a severe neurodegenerative disease associated with deficient arylsulfatase A activity. Biochemical confirmation of this disorder has been complicated by a clinically normal but enzymatically deficient variant, pseudo arylsulfatase-A deficiency (PD). The PD mutation is associated with two A-->G transitions in the arylsulfatase A gene. They can be detected simultaneously with a...

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PMID: 8456837
DOI: 10.1002/ajmg.1320450523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.PMID 8456837Read ↗

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Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.Semantic proximity Read ↗

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

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.Semantic proximity Read ↗

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.Semantic proximity Read ↗

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