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[Atypical phenotype of Fabry disease. Evidence of a new mutation].

Presse medicale (Paris, France : 1983) - 25 Nov 2000

Derouiche F, Rodier G, Cohen E, Boulay C, Bronner P, Battaglia F

Abstract excerpt

BACKGROUND: Fabry disease is a lysosomal disease resulting from deficient alpha galactosidase A activity. The enzyme's gene is situated on Xq22-1. Cardiac and cerebrovascular complications are usually observed late in the disease course. CASE REPORT: A 54-year-old patient was admitted for ischemi...

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PMID: 11149077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11149077-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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