Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease

BACKGROUND: Fabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues. While GLA deficiency was always considered as the fulcrum of the disease, recent attention shifted tow...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Namdar, Mehdi, Gebhard, Catherine, Studiger, Rafael, Shi, Yi, Mocharla, Pavani, Schmied, Christian, Brugada, Pedro, Lüscher, Thomas F., Camici, Giovanni G.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2012
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3340376/
https://ncbi.nlm.nih.gov/pubmed/22558451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036373
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