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Article

Diagnosis of arylsulfatase A deficiency.

American journal of medical genetics - 1 Aug 1992

Li Z G, Waye J S, Chang P L

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a neurologically devastating autosomal recessive disorder in humans associated with deficient arylsulfatase A activity. However, clinically normal individuals described as being pseudo-arylsulfatase-A deficient also demonstrate the same deficiency. Genotypically, they may be homozygous for the pseudodeficiency mutation (associated with 2 A-->G transitions in the cDNA of...

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PMID: 1357970
DOI: 10.1002/ajmg.1320430614

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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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Diagnosis of arylsulfatase A deficiency.PMID 1357970Read ↗

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

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

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

Molecular genetics of 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 ↗

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 ↗

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.Semantic proximity Read ↗

Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.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 ↗

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 ↗

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

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