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Fabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affec...
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3009617/ https://www.ncbi.nlm.nih.gov/pubmed/21092187 http://dx.doi.org/10.1186/1750-1172-5-30 |