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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise...

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Detalles Bibliográficos
Autores principales: Heo, Sun Hee, Kang, Eungu, Kim, Yoon-Myung, Go, Heounjeong, Kim, Kyung Yong, Jung, Jae Yong, Kang, Minji, Kim, Gu-Hwan, Kim, Jae-Min, Choi, In-Hee, Choi, Jin-Ho, Jung, Sung-Chul, Desnick, Robert J, Yoo, Han-Wook, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740533/
https://www.ncbi.nlm.nih.gov/pubmed/28835480
http://dx.doi.org/10.1136/jmedgenet-2017-104704