Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Münster Study (FaMüS) data

OBJECTIVE: Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism caused by deficient lysosomal α-galactosidase A activity. Progressive accumulation of globotriaosylceramide and related glycosphingolipids in vascular endothelial lysosomes of the heart, kidneys and brain is re...

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Detalles Bibliográficos
Autores principales: Engelen, Markus A, Brand, Eva, Baumeister, Timo B, Marquardt, T, Duning, Thomas, Osada, Nani, Schaefer, Roland M, Stypmann, Joerg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2012
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533111/
https://www.ncbi.nlm.nih.gov/pubmed/23175739
http://dx.doi.org/10.1136/bmjopen-2012-000879

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