5-Oxoprolinase deficiency: report of the first human OPLAH mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01728.x/fullpdf
Reference10 articles.
1. Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects.;Pitt;Clin Chem,1998
2. Inborn errors in the metabolism of glutathione.;Ristoff;Orphanet J Rare Dis,2007
3. Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay.;Bernier;J Inherit Metab Dis,1996
4. Glutathione.;Meister;Annu Rev Biochem,1983
5. 5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers-a new inborn error of the gamma-glutamyl cycle.;Larsson;Acta Paediatr Scand,1981
Cited by 19 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. Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?;Molecular Syndromology;2024
2. The Emerging Roles of γ-Glutamyl Peptides Produced by γ-Glutamyltransferase and the Glutathione Synthesis System;Cells;2023-12-13
3. Endoplasmic Reticulum Protein TXNDC5 Interacts with PRDX6 and HSPA9 to Regulate Glutathione Metabolism and Lipid Peroxidation in the Hepatic AML12 Cell Line;International Journal of Molecular Sciences;2023-12-05
4. A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability;Clinical Genetics;2023-06-15
5. Liver transcriptome analysis reveals changes in energy metabolism, oxidative stress, and apoptosis in pearl gentian grouper exposed to acute hypoxia;Aquaculture;2022-12
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