Contemporary scope of inborn errors of metabolism involving epilepsy or seizures
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry
Link
http://link.springer.com/article/10.1007/s11011-018-0288-1/fulltext.html
Reference34 articles.
1. Avanzini G, Depaulis A, Tassinari A, de Curtis M (2013) Do seizures and epileptic activity worsen epilepsy and deteriorate cognitive function? Epilepsia 54(Suppl 8):14–21
2. Bialer M, White HS (2010) Key factors in the discovery and development of new antiepileptic drugs. Nat. Rev. Drug Discov. 9(1):68–82
3. Chambers C, Jansen LA, Dhamija R (2016) Review of commercially available epilepsy genetic panels. J. Genet. Couns. 25(2):213–217
4. Darin N, Reid E, Prunetti L et al (2016) Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy. Am. J. Hum. Genet. 99(6):1325–1337
5. Della Mina E, Ciccone R, Brustia F et al (2015) Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. Eur. J. Hum. Genet. 23(3):354–362
Cited by 8 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. Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy;Frontiers in Neuroscience;2023-05-12
2. Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism;Acta Neurologica Belgica;2022-08-20
3. 2022 Overview of Metabolic Epilepsies;Genes;2022-03-12
4. Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives;Journal of Multidisciplinary Healthcare;2022-03
5. Clinical metabolomics for inborn errors of metabolism;Advances in Clinical Chemistry;2022
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