Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-013-9640-0
Reference45 articles.
1. Agnetti A, Bitton L, Tchana B et al (2013) Primary carnitine deficiency dilated cardiomyopathy: 28years follow-up. Int J Cardiol 162(2):e34–e35
2. Calvani M, Reda E, Arrigoni-Martelli E (2000) Regulation by carnitine of myocardial fatty acid and carbohydrate metabolism under normal and pathological conditions. Basic Res Cardiol 95(2):75–83
3. Cano A, Ovaert C, Vianey-Saban C et al (2008) Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia. Pediatr Cardiol 29(1):163–165
4. De Biase I, Schroer R, Pollard LM et al (2012) Primary carnitine deficiency presents atypically with long QT syndrome: a case report. JIMD Rep 2:87–90
5. Devereux RB, Alonso DR, Lutas EM et al (1986) Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 57(6):450–458
Cited by 31 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. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-07-01
2. The global prevalence and genetic spectrum of primary carnitine deficiency;2024-05-31
3. Cardiomyopathy associated with primary carnitine deficiency in adults: lack of complete response in patients with delayed treatment initiation;Revista Española de Cardiología (English Edition);2023-10
4. Patients with primary carnitine deficiency treated with L‐carnitine are alive and doing well—A 10‐year follow‐up in the Faroe Islands;JIMD Reports;2023-09-11
5. Seudoaneurisma en arteria carótida tras ECMO periférica;Revista Española de Cardiología;2023-09
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