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Article

Genomic analysis of Brazilian patients with Fabry disease.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Dec 2007

Pereira F S, Jardim L B, Netto C B, Burin M G, Cecchin C, Giugliani R, Matte U S

Abstract excerpt

Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme...

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Identifiers

PMID: 17713670
DOI: 10.1590/s0100-879x2006005000138

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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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