Glutathione synthetase deficiency: a novel mutation with femur agenesis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Glutathione synthetase deficiency: a novel mutation with femur agenesis

Published:2019-06-14 Issue:1 Volume:39 Page:38-44
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Guney Varal Ipek¹,Dogan Pelin¹,Gorukmez Orhan²,Dorum Sevil³,Akdag Arzu¹

Affiliation:

1. Division of Neonatology, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey;

2. Department of Genetics, University of Health Sciences Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey;

3. Division of Metabolism, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Bursa, Turkey

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2019.1627627

Reference12 articles.

1. A case of severe glutathione synthetase deficiency with novel GSS mutations

2. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies

3. Glutathione synthetase deficiency

4. Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency

5. Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats

Cited by 5 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. Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS);Clinical Genetics;2024-09-02

2. Cysteine and homocysteine can be exploited by GPX4 in ferroptosis inhibition independent of GSH synthesis;Redox Biology;2024-02

3. The Emerging Roles of γ-Glutamyl Peptides Produced by γ-Glutamyltransferase and the Glutathione Synthesis System;Cells;2023-12-13

4. Critical Roles of the Cysteine–Glutathione Axis in the Production of γ-Glutamyl Peptides in the Nervous System;International Journal of Molecular Sciences;2023-04-28

5. Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up;American Journal of Case Reports;2023-03-13

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