Prenatal analysis in two suspected cases of glutathione synthetase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00714275
Reference11 articles.
1. Chalmers RA, Lawson AM (1982)Organic Acids in Man. Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias. London: Chapman and Hall.
2. Hocart CH, Halpern B, Hick LA, Wong CO, Hammond JW, Wilcken B (1983) Hawkinsinuria: identification of quinolacetic acid and pyroglutamic acid during an acidotic phase.J Chromatogr 275: 237?243.
3. Jellum E, Kluge T, Börresen HC, Stokke O, Eldjarn L (1970) Pyroglutamic aciduria: a new inborn error of metabolism.Scand J Clin Lab Invest 26: 327?335.
4. Larsson A, Zetterström R, Hagenfeldt L, Andersson R, Dreborg S, Hörnell H (1974) Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism.Pediatr Res 8: 852?856.
5. Larsson A, Zetterström R, Hörnell H, Porath U (1976) Erythrocyte glutathione synthetase in 5-oxoprolinuria: Kinetic studies of the mutant enzyme and detection of heterozygotes.Clin Chim Acta 73: 19?23.
Cited by 10 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. Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other;Metabolites;2022-06-08
2. Genotype and clinical phenotype in four patients with glutathione synthetase deficiency;Meta Gene;2020-09
3. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency;Journal of Human Genetics;2016-03-17
4. Gestational age-related reference values for amniotic fluid organic acids;Prenatal Diagnosis;2009-11-30
5. Inborn errors in the metabolism of glutathione;Orphanet Journal of Rare Diseases;2007-03-30
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