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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Detalles Bibliográficos
Autores principales: Cairns, Tereza, Müntze, Jonas, Gernert, Judith, Spingler, Lisa, Nordbeck, Peter, Wanner, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581083/
https://www.ncbi.nlm.nih.gov/pubmed/30559317
http://dx.doi.org/10.1136/postgradmedj-2018-136056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581083/
https://www.ncbi.nlm.nih.gov/pubmed/30559317
http://dx.doi.org/10.1136/postgradmedj-2018-136056

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