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Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.

作者信息

Widhalm Kurt, Binder Christoph Benedikt, Kreissl Alexandra, Aldover-Macasaet Elsie, Fritsch Maria, Kroisboeck Susanne, Geiger Harald

机构信息

Department of Pediatrics, Division of Clinical Nutrition and Metabolism, Medical University of Vienna, Vienna, Austria.

出版信息

J Pediatr. 2011 Jan;158(1):167. doi: 10.1016/j.jpeds.2010.06.027. Epub 2010 Jul 24.

DOI:10.1016/j.jpeds.2010.06.027
PMID:20659736
Abstract
摘要

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Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.一名4岁男孩猝死：纯合子家族性高胆固醇血症中一种侵袭性低密度脂蛋白受体突变（W556R）导致冠状动脉近乎完全闭塞。
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