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Article

[Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].

La Revue de medecine interne - 1 Dec 2000

Germain D P

Abstract excerpt

INTRODUCTION: This review presents the clinical and genetic aspects of Fabry disease, along with recent advances in research. CURRENT KNOWLEDGE AND KEY POINTS: Fabry disease is an X-linked inborn error of metabolism due to a deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzymatic defect leads to the systemic accumulation of neutral glycosphingolipids in plasma and tissues. Clinical...

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Source

Identifiers

PMID: 11191676
DOI: 10.1016/s0248-8663(00)00269-1

Genes

GLA

Provenance

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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