Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference28 articles.
1. Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism;Budd;N. Engl. J. Med.,1967
2. A three-state prediction of single point mutations on protein stability changes;Capriotti;BMC Bioinformatics,2008
3. Prediction of protein stability changes for single-site mutations using support vector machines;Cheng;Proteins,2006
4. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6million newborns;Ensenauer;Clin. Chem.,2011
5. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids;Ensenauer;J. Biol. Chem.,2005
Cited by 7 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. Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review;Frontiers in Neurology;2022-07-28
2. Disorders of Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2021-04-20
3. Newborn screening for isovaleric acidemia in Quanzhou, China;Clinica Chimica Acta;2020-10
4. Investigating the Role of Missense SNPs on ALDH 1A1 mediated pharmacokinetic resistance to cyclophosphamide;Computers in Biology and Medicine;2020-10
5. Eight novel mutations detected from eight Chinese patients with isovaleric acidemia;Clinica Chimica Acta;2019-11
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