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Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4–5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. As enzyme replacement therapy is now more widely available,...

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Main Authors: Burton, James O, Dormer, John P, Binns, Helen E, Pickering, Warren P
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3444369/
https://ncbi.nlm.nih.gov/pubmed/22849389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-13-73
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