Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature

Published:2023-03 Issue: Volume:34 Page:100959
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Huynh Minh-Tuan,Landais Emilie,Agathe Jean-Madeleine De Sainte,Panchout Anne,Caroline De Vanssay De Blavous-Legendre,Bruel Henri

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference31 articles.

1. Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy;Azize;J. Hum. Genet.,2014

2. Nonketotic hyperglycinemia of infants in Taiwan;Chiu;Pediatr. Neonatol.,2016

3. Novel GLDC compound heterozygous variant leading to Nonketotic hyperglycinemia: case report and literature review;Cao;Front. Pediatr.,2021

4. A novel mutation in a neonate with Nonketotic hyperglycinemia;Meyer;Pediatr. Neurol.,2010

5. Arslan N (2017) A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia;Kose;Neurosciences,2017

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. Natural history and outcome of nonketotic hyperglycinemia in China;Frontiers in Neurology;2024-08-14

2. Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician;Current Pediatrics;2024-01-12

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