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A Japanese Woman with Polygenic Familial Hypercholesteremia Who Exhibited Trivial Atherosclerosis.

作者信息

Saotome Masao, Maekawa Yuichiro

机构信息

Division of Cardiology, Internal Medicine III, Hamamatsu University School of Medicine, Japan.

出版信息

Intern Med. 2024;63(15):2111-2112. doi: 10.2169/internalmedicine.3089-23. Epub 2024 Aug 1.

DOI:10.2169/internalmedicine.3089-23
PMID:39085091
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11358748/
Abstract
摘要

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本文引用的文献

1
A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening.日本 LDLR 蛋白截断变异和 PCSK9 变异家族性高胆固醇血症病例，无明显动脉粥样硬化但表现出显著的跟腱增厚。
Intern Med. 2024;63(15):2137-2142. doi: 10.2169/internalmedicine.2726-23. Epub 2024 Aug 1.
2
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.不同类型致病变异对家族性高胆固醇血症表型的影响。
Front Genet. 2022 Apr 11;13:872056. doi: 10.3389/fgene.2022.872056. eCollection 2022.
3
Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia.杂合子家族性高胆固醇血症的诊断与治疗
J Am Heart Assoc. 2019 Dec 17;8(24):e013225. doi: 10.1161/JAHA.119.013225. Epub 2019 Dec 16.
4
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.载脂蛋白 B 代谢途径相关基因致病性变异在日本杂合子家族性高胆固醇血症患者中的影响。
Atherosclerosis. 2019 Oct;289:101-108. doi: 10.1016/j.atherosclerosis.2019.08.004. Epub 2019 Aug 19.
5
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.2017 年家族性高胆固醇血症诊断与治疗指南
J Atheroscler Thromb. 2018 Aug 1;25(8):751-770. doi: 10.5551/jat.CR003. Epub 2018 Jun 7.
6
Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management.家族性高胆固醇血症：基因检测与患者管理指南的系统评价
Front Public Health. 2017 Sep 25;5:252. doi: 10.3389/fpubh.2017.00252. eCollection 2017.
7
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.家族性高胆固醇血症在普通人群中漏诊和治疗不足：预防冠心病的临床医生指南：欧洲动脉粥样硬化学会共识声明。
Eur Heart J. 2013 Dec;34(45):3478-90a. doi: 10.1093/eurheartj/eht273. Epub 2013 Aug 15.
8
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.日本北陆地区家族性高胆固醇血症纯合子的分子遗传流行病学研究。
Atherosclerosis. 2011 Feb;214(2):404-7. doi: 10.1016/j.atherosclerosis.2010.11.005. Epub 2010 Nov 13.