Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference33 articles.
1. Novel mutations of the human carnitine transporter OCTN2;Bene;Clin Exp Lab Med (Hungarian),2002
2. Metabolic disease and sudden, unexpected death in infancy;Bennett;Hum Pathol,1994
3. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality;Burwinkel;Biochem Biophys Res Commun,1999
4. Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency;Cederbaum;Mol Genet Metab,2002
5. Sudden infant death following pivampicillin treatment in a patient with carnitine transporter deficiency;Christensen;J Inherit Metab Dis,2002
Cited by 34 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. Primary carnitine deficiency is a life‐long disease;JIMD Reports;2022-07-27
2. Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach;Journal of Inherited Metabolic Disease;2022-02-03
3. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’;Journal of Neuromuscular Diseases;2021-05-13
4. Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis;Current Molecular Medicine;2020-04-28
5. The decision to discontinue screening for carnitine uptake disorder in New Zealand;Journal of Inherited Metabolic Disease;2019-01
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