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Frequency of Fabry disease in male and female haemodialysis patients in Spain

BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme α-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phen...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2837018/
https://www.ncbi.nlm.nih.gov/pubmed/20122163
http://dx.doi.org/10.1186/1471-2350-11-19