The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement
Author:
Affiliation:
1. ; Department of Pediatrics and Vanderbilt Children's Hospital; Vanderbilt University School of Medicine; Nashville Tennessee USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000028839.57386.88/fullpdf
Reference4 articles.
1. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement;Boer;J Pediatr,2003
2. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death;Ibdah;J Clin Invest,2001
3. Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart;Lehman;Clin Exp Pharmacol Physiol,2002
4. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ß-subunit mutations;Spiekerkoetter;Hum Mutat,2003
Cited by 13 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. Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature;European Journal of Medical Genetics;2021-12
2. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases;Journal of Human Genetics;2017-05-18
3. Mitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood;Cardioskeletal Myopathies in Children and Young Adults;2017
4. Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease;Bioscience Reports;2016-03-16
5. A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis;Molecular Genetics and Metabolism Reports;2016-03
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