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[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].

Acta reumatologica portuguesa - 1 Jan 2000

Cruz Margarida, Araújo Francisco, Nogueira David, Neves Fernanda

Abstract excerpt

Fabry disease is an X-linked hereditary metabolic storage disorder, due to the deficiency in lysosomal alpha-galactosidase A, with the consequent glycosphingolipids accumulation, primarily globotriaosylceramide, at cellular level. Multiorganic involvement occurs progressively, leading to severe m...

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PMID: 22472932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22472932-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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