Chylomicronemia with Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

BACKGROUND: Recent studies in mice have established that an endothelial cell protein, GPIHBP1, is essential for the lipolytic processing of triglyceride-rich lipoproteins. METHODS AND RESULTS: We report the discovery of a homozygous missense mutation in GPIHBP1 in a young boy with severe chylomicron...

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Auteurs principaux: Franssen, Remco, Young, Stephen G., Peelman, Frank, Hertecant, Jozef, Sierts, Jeroen A., Schimmel, Alinda W. M., Bensadoun, André, Kastelein, John J.P., Fong, Loren G., Dallinga-Thie, Geesje M., Beigneux, Anne P.
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858258/
https://ncbi.nlm.nih.gov/pubmed/20124439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.109.908905
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