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Article

A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.

Dermatology (Basel, Switzerland) - 1 Jan 2000

Handa Y, Yotsumoto S, Isobe E, Sai Y, Yoshii N, Nakao S, Fujita N, Hamaguchi S, Kanzaki T

Abstract excerpt

We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.

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Identifiers

PMID: 10828639
DOI: 10.1159/000018372

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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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