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Article

Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.

The Journal of dermatology - 1 Aug 1992

Inaoki M, Otsuki N, Ishise S, Ueda Y, Sakuraba H

Abstract excerpt

A 34-year-old Japanese male had leg pain, edema of the legs, hypohidrosis, whorl-like opacities of the bilateral cornea, bilateral subcapsular cataracts, and chest discomfort on exercise. He had no characteristic angiokeratomas but did have telangiectases. The electrocardiogram revealed high voltage. The echocardiogram revealed mild mitral regurgitation. The alpha-galactosidase A activity in cultured lymphoblasts...

Topics

Adult
Fabry Disease
Heterozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Skin
alpha-Galactosidase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1328341
DOI: 10.1111/j.1346-8138.1992.tb03266.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1328341-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.PMID 1328341Read ↗

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.Semantic proximity Read ↗

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.Semantic proximity Read ↗

[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].Semantic proximity Read ↗

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.Semantic proximity Read ↗

A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.Semantic proximity Read ↗

[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].Semantic proximity Read ↗

Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.Semantic proximity Read ↗

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.Semantic proximity Read ↗

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.Semantic proximity Read ↗

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.Semantic proximity Read ↗

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.Semantic proximity Read ↗

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.Semantic proximity Read ↗

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