A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction

Published:2002-06 Issue:4 Volume:25 Page:325-327
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Benelli C.¹,Fouque F.¹,Redonnet-Vernhet I.²,Malgat M.³,Fontan D.⁴,Marsac C.⁵,Dey R.⁵

Affiliation:

1. ; INSERM U530; Hôpital Necker; Paris

2. ; Laboratoire de biochimie Hôpital Pellegrin; Bordeaux

3. EMI 99-29, INSERM; Université; Bordeaux 2 Bordeaux

4. ; Département de Pédiatrie; Hôpital Pellegrin; Bordeaux France

5. Laboratoire CNRS UPR 1524 Faculté Cochin; Paris

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1016570828778/fullpdf

Reference4 articles.

1. Mutations and polymorphisms in the pyruvate dehydrogenase E1a gene;Dahl;Hum Mutat,1992

2. Mutations in the X-linkedpyruva te dehydrogenase (E1) a subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency;Lissens;Hum Mutat,2000

3. Biochemical andge netic studies of four patients with pyruvate dehydrogenase E1a deficiency;Marsac;Hum Genet,1997

4. Pyruvate dehydrogenase deficiency. Clinical presentation andmolecular genetic characterization of five new patients;Matthews;Brain,1994

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. Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment;JIMD Reports;2014

2. Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43];Molecular Genetics and Metabolism;2012-07

3. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients;Molecular Genetics and Metabolism;2012-07

4. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients;Molecular Genetics and Metabolism;2012-01

5. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein;Molecular Genetics and Metabolism;2011-12

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