• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?

作者信息

Nordestgaard Børge G, Benn Marianne

机构信息

Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.

Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

出版信息

Eur Heart J. 2017 May 21;38(20):1580-1583. doi: 10.1093/eurheartj/ehx136.

DOI:10.1093/eurheartj/ehx136
PMID:28419271
Abstract
摘要

相似文献

1
Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?对家族性高胆固醇血症进行基因检测对于低密度脂蛋白胆固醇水平高的个体至关重要:全球谁在做这项检测?
Eur Heart J. 2017 May 21;38(20):1580-1583. doi: 10.1093/eurheartj/ehx136.
2
[A Family History of Hypercholesterolemia - the Role of Genetics].[家族性高胆固醇血症的家族史——遗传学的作用]
Praxis (Bern 1994). 2023;112(4):245-249. doi: 10.1024/1661-8157/a004013.
3
Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease.寡基因家族性高胆固醇血症、低密度脂蛋白胆固醇与冠状动脉疾病。
J Clin Lipidol. 2018 Nov-Dec;12(6):1436-1444. doi: 10.1016/j.jacl.2018.08.006. Epub 2018 Aug 23.
4
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).家族性高胆固醇血症的全球视角:来自 EAS 家族性高胆固醇血症研究协作组(FHSC)的横断面研究。
Lancet. 2021 Nov 6;398(10312):1713-1725. doi: 10.1016/S0140-6736(21)01122-3. Epub 2021 Sep 7.
5
Polygenic familial hypercholesterolaemia: does it matter?多基因家族性高胆固醇血症:有关系吗?
Lancet. 2013 Apr 13;381(9874):1255-7. doi: 10.1016/S0140-6736(13)60187-7. Epub 2013 Feb 22.
6
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.家族性高胆固醇血症的临床特征和基因诊断对严重高胆固醇血症患者冠心病患病率的影响。
Eur Heart J. 2017 May 21;38(20):1573-1579. doi: 10.1093/eurheartj/ehx004.
7
Genetic screening for familial hypercholesterolaemia in Hong Kong.香港家族性高胆固醇血症的基因筛查。
Hong Kong Med J. 2018 Jun;24 Suppl 3(3):7-10.
8
Prevalence of phenotypic familial hypercholesterolaemia and elevated lipoprotein(a) in patients with premature coronary artery disease: implications for developing cardiometabolic services.早发性冠状动脉疾病患者中表型家族性高胆固醇血症和脂蛋白(a)升高的患病率:对发展心脏代谢服务的意义
Coron Artery Dis. 2022 Aug 1;33(5):421-423. doi: 10.1097/MCA.0000000000001129. Epub 2022 Jan 17.
9
[Familial hypercholesterolemia: A largely underestimated cardiovascular risk].家族性高胆固醇血症:一种严重被低估的心血管风险
Ann Cardiol Angeiol (Paris). 2018 Feb;67(1):1-8. doi: 10.1016/j.ancard.2017.04.015. Epub 2017 May 31.
10
Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia.脂蛋白(a)升高、高血压和肾功能不全作为基因确诊的杂合子家族性高胆固醇血症患者冠状动脉疾病的预测因素。
Int J Cardiol. 2015 Dec 15;201:633-8. doi: 10.1016/j.ijcard.2015.08.146. Epub 2015 Aug 21.

引用本文的文献

1
SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.SYNTAX I评分与经基因确诊的中国冠心病患者家族性高胆固醇血症相关。
BMC Cardiovasc Disord. 2024 Dec 21;24(1):737. doi: 10.1186/s12872-024-04428-3.
2
Innovative Implementation Strategies for Familial Hypercholesterolemia Cascade Testing: The Impact of Genetic Counseling.家族性高胆固醇血症级联检测的创新实施策略:遗传咨询的影响
J Pers Med. 2024 Aug 9;14(8):841. doi: 10.3390/jpm14080841.
3
The design and rationale of the Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) study.
基于心脏重症监护病房的高胆固醇血症快速评估与治疗(ACCURATE)研究的设计与原理
Am Heart J Plus. 2022 Feb 4;13:100097. doi: 10.1016/j.ahjo.2022.100097. eCollection 2022 Jan.
4
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.载脂蛋白 B100 基因 C.415G>A 突变通过减弱 LDLR 与 LDL 的结合引起家族性高胆固醇血症。
Lipids Health Dis. 2024 Mar 21;23(1):85. doi: 10.1186/s12944-024-02068-2.
5
Genetic testing for familial hypercholesterolemia.家族性高胆固醇血症的基因检测。
Curr Opin Lipidol. 2024 Apr 1;35(2):93-100. doi: 10.1097/MOL.0000000000000925. Epub 2024 Jan 31.
6
Efficacy and Safety of Statin Treatment in Children with Familial Hypercholesterolemia: Outcomes of 20 Years of Experience.他汀类药物治疗家族性高胆固醇血症儿童的疗效和安全性:20年经验的结果
J Clin Med. 2023 Nov 21;12(23):7197. doi: 10.3390/jcm12237197.
7
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.加拿大魁北克家族性高胆固醇血症的基因检测:一项单中心回顾性队列研究。
CMAJ Open. 2023 Aug 22;11(4):E754-E764. doi: 10.9778/cmajo.20220108. Print 2023 Jul-Aug.
8
Large-Scale CRISPR Screen of LDLR Pathogenic Variants.低密度脂蛋白受体(LDLR)致病变体的大规模CRISPR筛选
Research (Wash D C). 2023 Jul 25;6:0203. doi: 10.34133/research.0203. eCollection 2023.
9
Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.巴基斯坦家族性高胆固醇血症和血脂异常基本管理基础设施的映射:一项横断面研究。
Lancet Reg Health Southeast Asia. 2023 Feb 20;12:100163. doi: 10.1016/j.lansea.2023.100163. eCollection 2023 May.
10
Barriers and shortcomings in access to cardiovascular management and prevention for familial hypercholesterolemia during the COVID-19 pandemic.COVID-19 大流行期间家族性高胆固醇血症患者心血管管理和预防服务的获取障碍和不足。
Clin Cardiol. 2023 Aug;46(8):831-844. doi: 10.1002/clc.24059. Epub 2023 Jun 1.