Of the importance of the clinical phenotypes in the interpretation of the studies dealing with Fabry disease

Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies with agalsidase alfa and beta have been available. In this letter we underline t...

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Detalles Bibliográficos
Autores principales: Mauhin, Wladimir, Lidove, Olivier, Benveniste, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322341/
https://www.ncbi.nlm.nih.gov/pubmed/30616652
http://dx.doi.org/10.1186/s13023-018-0979-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322341/
https://www.ncbi.nlm.nih.gov/pubmed/30616652
http://dx.doi.org/10.1186/s13023-018-0979-z

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