Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference53 articles.
1. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review;Sigauke;Lab. Invest.,2003
2. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria;DiMauro;Science,1973
3. Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children;Taroni;Curr. Opin. Neurol.,1996
4. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency;Thuillier;Hum. Mutat.,2003
5. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients;Taroni;Nat. Genet.,1993
Cited by 54 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. Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report;Archives de Pédiatrie;2024-01
2. Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis;World Journal of Gastroenterology;2023-03-28
3. Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect;BMJ Case Reports;2022-12
4. Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies;Molecular Genetics and Metabolism;2022-09
5. Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China;Frontiers in Genetics;2022-03-14
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