Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference15 articles.
1. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005–2009;Berg;Epilepsia,2010
2. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors;Ng;Hum. Mol. Genet.,2015
3. Pyrimidine nucleotide biosynthesis in animals: genes, enzymes, and regulation of UMP biosynthesis;Jones;Annu. Rev. Biochem.,1980
4. Purine and pyrimidine nucleotide synthesis and metabolism;Moffatt,2002
5. De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways;Huang;Cell. Mol. Life Sci.,2003
Cited by 4 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. Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report;Brain and Development;2024-08
2. CAD-Related Disorder (EIEE-50) in an Infant With Cortical Visual Impairment;Journal of Child Neurology;2024-05
3. Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2;British Journal of Haematology;2023-11-20
4. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency;Journal of Inherited Metabolic Disease;2023-09-11
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