• 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

[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].

作者信息

Martínez Lizbeth, Ordóñez Sánchez María Luisa, Letona Rosario, Olvera Sumano Verónica, Guerra Mariano Miguel, Tusié-Luna María Teresa, Aguilar-Salinas Carlos Alberto

机构信息

Hospital Regional de Alta Especialidad de Oaxaca, Oaxaca, Oax.

出版信息

Gac Med Mex. 2011 Sep-Oct;147(5):394-8.

PMID:22089669
Abstract

We present the case of an 18-years old women with homozygous familial hypercholesterolemia in which a LDL receptor mutation (c2271delT) was found. This mutation has been informed only in Mexicans. The patient was born in Oaxaca, Mexico. She has atypical location of tendinous and tuberous xanthomata, coronary atherosclerosis and multiple valve involvement. The response to ezetimibe/high dose statin therapy was poor. This case is an example of the occurrence of homozygous forms of familial hypercholesterolemia in genetically isolated populations of Mexico.

摘要

相似文献

1
[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].
Gac Med Mex. 2011 Sep-Oct;147(5):394-8.
2
[Three-year-old boy--a homozygote for familiar hypercholesterolemia].三岁男孩——家族性高胆固醇血症纯合子
Lijec Vjesn. 2007 May;129(5):130-3.
3
A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.一名家族性高胆固醇血症的中国纯合子：低密度脂蛋白受体基因中一个新的C263R突变的鉴定。
J Hum Genet. 2001;46(3):152-4. doi: 10.1007/s100380170104.
4
Liver transplantation in a subject with familial hypercholesterolemia carrying the homozygous p.W577R LDL-receptor gene mutation.对一名携带纯合子p.W577R低密度脂蛋白受体基因突变的家族性高胆固醇血症患者进行肝移植。
Clin Transplant. 2008 Mar-Apr;22(2):180-4. doi: 10.1111/j.1399-0012.2007.00764.x.
5
Sudden death in a 4-year-old boy: a near-complete occlusion of the coronary artery caused by an aggressive low-density lipoprotein receptor mutation (W556R) in homozygous familial hypercholesterolemia.一名4岁男孩猝死：纯合子家族性高胆固醇血症中一种侵袭性低密度脂蛋白受体突变（W556R）导致冠状动脉近乎完全闭塞。
J Pediatr. 2011 Jan;158(1):167. doi: 10.1016/j.jpeds.2010.06.027. Epub 2010 Jul 24.
6
Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene.低密度脂蛋白受体基因发生新型1439 C→T突变的纯合子家族性高胆固醇血症患者中低密度脂蛋白受体的功能分析
Chin Med J (Engl). 2008 May 5;121(9):776-81.
7
[Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].[从一名家族性高胆固醇血症患者中鉴定低密度脂蛋白受体基因位点的新型突变]
Sheng Li Xue Bao. 2004 Oct 25;56(5):566-72.
8
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.家族性高胆固醇血症与家族性载脂蛋白B - 100缺陷症：116例患者的表型表达比较
Eur J Med Res. 1996 May 24;1(8):383-6.
9
[Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, "FH Graz-1") in familial hypercholesterolemia-- a familystudy].
Acta Med Austriaca. 1999;26(1):20-5.
10
Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
J Med Assoc Thai. 2001 Dec;84 Suppl 3:S690-5.

引用本文的文献

1
Use of PCSK9 Inhibitor in a Mexican Boy with Compound Heterozygous Familial Hypercholesterolemia: A Case Report.PCSK9抑制剂在一名患有复合杂合子家族性高胆固醇血症的墨西哥男孩中的应用：病例报告
J Endocr Soc. 2019 Nov 21;4(2):bvz018. doi: 10.1210/jendso/bvz018. eCollection 2020 Feb 1.
2
The panorama of familial hypercholesterolemia in Latin America: a systematic review.拉丁美洲家族性高胆固醇血症全景：一项系统综述。
J Lipid Res. 2016 Dec;57(12):2115-2129. doi: 10.1194/jlr.R072231. Epub 2016 Oct 24.