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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: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Acesso em linha: | 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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