Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

Published:2021-03-04 Issue:4 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Gong Ke¹^ORCID,Xie Li¹,Wu Zhong‐shi¹,Xie Xia¹,Zhang Xing‐xing²,Chen Jin‐Lan¹

Affiliation:

1. Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South University Changsha China

2. Department of Pediatrics The Second Xiangya Hospital of Central South UniversityCentral South University Changsha China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1651

Reference52 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Leigh syndrome: Serial MR imaging and clinical follow‐up;Arii J.;AJNR American Journal of Neuroradiology,2000

3. A guide to diagnosis and treatment of Leigh syndrome

4. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

5. Ketogenic diets: from cancer to mitochondrial diseases and beyond

Cited by 2 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. Nutritional Interventions for Patients with Mitochondrial POLG-Related Diseases: A Systematic Review on Efficacy and Safety;International Journal of Molecular Sciences;2022-09-13

2. Conditional Knockout of Pdha1 in Mouse Hippocampus Impairs Cognitive Function: The Possible Involvement of Lactate;Frontiers in Neuroscience;2021-10-14

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