Article
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
BMC medical genetics - 1 Feb 2010
Gaspar Paulo, Herrera Julio, Rodrigues Daniel, Cerezo Sebastián, Delgado Rodrigo, Andrade Carlos F, Forascepi Ramón, Macias Juan, del Pino Maria D, Prados Maria D, de Alegria Pilar R, Torres Gerardo, Vidau Pedro, Sá-Miranda Maria C
Abstract excerpt
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme alpha-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression. METHODS: A combined enzymatic and genetic strategy was used,...
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