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Hot topics in Fabry disease
Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement therapy (ERT) has...
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| Pubblicato in: | Postgrad Med J |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6581083/ https://ncbi.nlm.nih.gov/pubmed/30559317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/postgradmedj-2018-136056 |
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