Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.
作者： Inmaculada Coca‐Prieto , Olessia Kroupa , Pedro Gonzalez‐Santos , Joëlle Magne , Gunilla Olivecrona
DOI: 10.1111/J.1365-2796.2011.02361.X
关键词: Mutation 、 Plasma lipoprotein 、 Missense mutation 、 Catabolism 、 Internal medicine 、 Lipase 、 Endocrinology 、 Lipoprotein lipase 、 GPIHBP1 、 Medicine
摘要: Objectives: Deficiency in the catabolism of triglyceride-rich lipoproteins is main cause childhood-onset chylomicronaemia syndrome. Missense mutations lipoprotein lipase (LPL) or prot ...
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