Diagnosis of Pyridoxine-Dependent Seizures in a Nineteen-Year-Old Patient
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference6 articles.
1. Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine;Hunt;Pediatrics,1954
2. Pyridoxine-dependent seizures: New genetic and biochemical clues to help with diagnosis and treatment;Gospe;Curr Opin Neurol,2006
3. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: Review of 63 North American cases submitted to a patient registry;Basura;Eur J Pediatr,2009
4. Mutations in antiquitin in individuals with pyridoxine-dependent seizures;Mills;Nat Med,2006
5. Prevalence of ALDH7A1 mutations in 19 North American pyridoxine-dependent seizure patients;Bennett;Epilepsia,2009
Cited by 13 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. Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review;Epilepsy Research;2024-05
2. Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research;Annals of the Child Neurology Society;2023-03
3. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy;Neurology;2022-08-25
4. A case for newborn screening for pyridoxine-dependent epilepsy;Molecular Case Studies;2022-02-25
5. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency;Journal of Inherited Metabolic Disease;2020-12
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