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本文引用的文献

1
Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis.家族性高胆固醇血症在普通人群和动脉粥样硬化性心血管疾病患者中的患病率：系统评价和荟萃分析。
Circulation. 2020 Jun 2;141(22):1742-1759. doi: 10.1161/CIRCULATIONAHA.119.044795. Epub 2020 May 29.
2
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.单基因与多基因高胆固醇血症与动脉粥样硬化性心血管疾病风险的关联。
JAMA Cardiol. 2020 Apr 1;5(4):390-399. doi: 10.1001/jamacardio.2019.5954.
3
Cholesterol-Lowering Agents.降胆固醇药物。
Circ Res. 2019 Feb;124(3):364-385. doi: 10.1161/CIRCRESAHA.118.313238.
4
The complex molecular genetics of familial hypercholesterolaemia.家族性高胆固醇血症的复杂分子遗传学。
Nat Rev Cardiol. 2019 Jan;16(1):9-20. doi: 10.1038/s41569-018-0052-6.
5
Familial hypercholesterolaemia.家族性高胆固醇血症。
Nat Rev Dis Primers. 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93.
6
Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel.低密度脂蛋白导致动脉粥样硬化性心血管疾病。1. 来自遗传、流行病学和临床研究的证据。欧洲动脉粥样硬化学会共识小组的共识声明。
Eur Heart J. 2017 Aug 21;38(32):2459-2472. doi: 10.1093/eurheartj/ehx144.
7
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.在美国单一医疗体系中对家族性高胆固醇血症进行基因鉴定。
Science. 2016 Dec 23;354(6319). doi: 10.1126/science.aaf7000.
8
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.临床确诊的高胆固醇血症的多基因与单基因病因
Arterioscler Thromb Vasc Biol. 2016 Dec;36(12):2439-2445. doi: 10.1161/ATVBAHA.116.308027. Epub 2016 Oct 20.
9
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.对重度高胆固醇血症患者进行家族性高胆固醇血症基因测序的诊断率及临床应用价值
J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.
10
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.导致家族性高胆固醇血症的突变：对哥本哈根普通人群研究中的 98098 个人进行筛查，估计患病率为 1/217。
Eur Heart J. 2016 May 1;37(17):1384-94. doi: 10.1093/eurheartj/ehw028. Epub 2016 Feb 22.

What Is Familial Hypercholesterolemia, and Why Does It Matter?

作者信息

Khera Amit V, Hegele Robert A

机构信息

Center for Genomic Medicine and Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston (A.V.K.).

Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (A.V.K.).

出版信息

Circulation. 2020 Jun 2;141(22):1760-1763. doi: 10.1161/CIRCULATIONAHA.120.046961. Epub 2020 Jun 1.

DOI:10.1161/CIRCULATIONAHA.120.046961
PMID:32479201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7299543/
Abstract
摘要