Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference19 articles.
1. Two α-subunit donor splice site mutations cause human trifunctional protein deficiency;Brackett;J. Clin. Invest.,1995
2. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene;Das;Clin. Chem.,2006
3. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement;Den Boer;J. Pediatr.,2003
4. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients;Den Boer;Pediatrics,2002
5. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women;Ibdah;N Engl J. Med.,1999
Cited by 26 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. Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency;JCI Insight;2024-09-10
2. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism;Avery's Diseases of the Newborn;2024
3. The Physiological and Pathological Role of Acyl-CoA Oxidation;International Journal of Molecular Sciences;2023-10-03
4. Nutrigenomics in the management and prevention of metabolic disorders;Role of Nutrigenomics in Modern-day Healthcare and Drug Discovery;2023
5. How longitudinal observational studies can guide screening strategy for rare diseases;Journal of Inherited Metabolic Disease;2022-05-10
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