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Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.急性冠脉综合征患者的家族性高胆固醇血症：来自 EXPLORE-J 的遗传见解。
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4
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.比较来自八个欧洲国家的杂合子家族性高胆固醇血症（FH）儿童的突变谱及其与治疗前后血脂指标的关系。
Atherosclerosis. 2021 Feb;319:108-117. doi: 10.1016/j.atherosclerosis.2021.01.008. Epub 2021 Jan 13.
5
The first Japanese cases of familial hypercholesterolemia due to a known pathogenic APOB gene variant, c.10580 G>A: p.(Arg3527Gln).日本首例已知致病性 APOB 基因变异引起的家族性高胆固醇血症病例：c.10580G>A：p.(Arg3527Gln)。
J Clin Lipidol. 2020 Jul-Aug;14(4):482-486. doi: 10.1016/j.jacl.2020.05.007. Epub 2020 May 22.
6
A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.日本家族性高胆固醇血症中低密度脂蛋白受体基因的致病突变目录。
J Clin Lipidol. 2020 May-Jun;14(3):346-351.e9. doi: 10.1016/j.jacl.2020.03.002. Epub 2020 Mar 24.
7
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.儿童家族性高胆固醇血症的普遍筛查：斯洛文尼亚模式和文献回顾。
Atherosclerosis. 2018 Oct;277:383-391. doi: 10.1016/j.atherosclerosis.2018.06.858.
8
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.
9
Guidance for Pediatric Familial Hypercholesterolemia 2017.2017 年儿童家族性高胆固醇血症治疗指南
J Atheroscler Thromb. 2018 Jun 1;25(6):539-553. doi: 10.5551/jat.CR002. Epub 2018 Feb 6.
10
Screening methods in the diagnosis and assessment of children and adolescents with familial hypercholesterolemia.儿童和青少年家族性高胆固醇血症诊断与评估中的筛查方法
Expert Rev Cardiovasc Ther. 2013 Aug;11(8):1061-6. doi: 10.1586/14779072.2013.814851.

The Roles of Genetic Analysis in the Diagnosis of Pediatric Patients with Familial Hypercholesterolemia.

作者信息

Harada-Shiba Mariko

机构信息

National Cerebral and Cardiovascular Center Research Institute.

出版信息

J Atheroscler Thromb. 2022 May 1;29(5):575-576. doi: 10.5551/jat.ED193. Epub 2022 Mar 5.

DOI:10.5551/jat.ED193
PMID:35249907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9135651/
Abstract
摘要