Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement

Published:2021-08-03 Issue:5 Volume:100 Page:529-541
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Di Taranto Maria Donata¹^ORCID,Giacobbe Carola¹,Palma Daniela¹,Iannuzzo Gabriella²,Gentile Marco²,Calcaterra Ilenia²,Guardamagna Ornella³,Auricchio Renata⁴,Di Minno Matteo Nicola Dario⁴,Fortunato Giuliana¹^ORCID

Affiliation:

1. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università degli Studi di Napoli Federico II, CEINGE Biotecnologie Avanzate s.c. a r.l. Naples Italy

2. Dipartimento di Medicina Clinica e Chirurgia Università degli Studi di Napoli Federico II Naples Italy

3. Dipartimento di Scienze della Sanità Pubblica e Pediatriche Università degli Studi di Torino Turin Italy

4. Dipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II Naples Italy

Funder

Amgen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14036

Reference45 articles.

1. 2019 ESC/EAS guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk

2. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

3. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis

4. Familial hypercholesterolemia: A complex genetic disease with variable phenotypes

5. Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Complex Coronary Artery Lesions in a Young Woman With an Acute Myocardial Infarction and Genetically Confirmed Familial Hypercholesterolemia: A Case Report and Literature Review From a Developing Country;Cureus;2024-08-30

2. Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA);Nutrition, Metabolism and Cardiovascular Diseases;2024-08

3. Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life;Journal of Cardiovascular Development and Disease;2024-04-17

4. Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia;Genes;2024-04-06

5. The Lipoprotein Profile Evaluated by 1H-NMR Improves the Performance of Genetic Testing in Familial Hypercholesterolemia;The Journal of Clinical Endocrinology & Metabolism;2024-01-23

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3