Neonatal-onset carbamoyl phosphate synthetase I deficiency
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference10 articles.
1. The study of carbamoyl phosphate synthetase 1 deficiency sheds light on the mechanism for switching on/off the urea cycle;Díez-Fernández;J Genet Genomics,2015
2. The incidence of urea cycle disorders;Summar;Mol Genet Metab,2013
3. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan;Uchino;J Inherit Metab Dis,1998
4. Phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort;Funghini;Gene,2012
5. Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients;Ali;Eur J Pediatr,2016
Cited by 12 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. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review;BMC Medical Genomics;2023-06-26
2. Bioactive compounds for metabolic diseases;Role of Nutrigenomics in Modern-day Healthcare and Drug Discovery;2023
3. Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency;Frontiers in Neuroscience;2022-10-21
4. Stroke-like Episodes in Inherited Neurometabolic Disorders;Metabolites;2022-09-30
5. The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency;Child Neurology Open;2021-01-01
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