Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Published:2009-06 Issue:2 Volume:404 Page:95-99
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Law Lap-Kay,Tang Nelson L.S.,Hui Joannie,Fung Simon L.M.,Ruiter Jos,Wanders Ronald J.A.,Fok Tai-Fai,Lam Christopher W.K.

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference17 articles.

1. Defects of electron transfer flavoprotein and electron transfer flavoprotein–ubiquinone oxidoreductase; glutaric aciduria type II;Frerman,2001

2. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric academia type II fibroblasts;Frerman;Proc Natl Acad Sci,1985

3. Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II;Ikeda;J Clin Invest,1986

4. Electron transfer flavoprotein deficiency: functional and molecular aspects;Schiff;Mol Genet Metab,2006

5. Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution;Roberts;Proc Natl Acad Sci,1996

Cited by 44 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. Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report;World Journal of Clinical Cases;2024-08-16

2. Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort;Journal of Clinical Neurology;2024

3. Identification of iron metabolism-related predictive markers of endometriosis and endometriosis-relevant ovarian cancer;Medicine;2023-04-14

4. Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series;Frontiers in Neurology;2021-11-08

5. Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study;Human Molecular Genetics;2021-10-27

同舟云学术

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