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Article

The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.

Journal of inherited metabolic disease - 1 Jan 1993

Goldenfum S, Malcolm S, Young E, Winchester B

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Leukodystrophy, Metachromatic

Source

Identifiers

PMID: 7907382
DOI: 10.1007/BF00711527

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.PMID 7907382Read ↗

Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.Semantic proximity Read ↗

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties.Semantic proximity Read ↗

Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.Semantic proximity Read ↗

Searching for mutations in the arylsulphatase A gene.Semantic proximity Read ↗

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.Semantic proximity Read ↗

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.Semantic proximity Read ↗

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.Semantic proximity Read ↗

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

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