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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 ischemic stroke subsequent to thrombosis of the right sylvian artery. The only significant event in the patient's history was...

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PMID: 11149077

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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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