Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_482
Reference21 articles.
1. Albersen M, Groenendaal F, van der Ham M, de Koning TJ et al (2012) Vitamin B6 vitamer concentrations in cerebrospinal fluid differ between preterm and term newborn infants. Pediatrics 130(1):e191–e198
2. Bagci S, Zschocke J, Hoffmann GF et al (2008) Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed 93(2):F151–F152
3. Clayton PT (2006) B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 29(2–3):317–326
4. Footitt EJ, Heales SJ, Mills PB, Allen GF, Oppenheim M, Clayton PT (2011) Pyridoxal 5′-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis 34(2):529–538
5. Goyal M, Fequiere PR, McGrath TM, Hyland K (2013) Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid. Pediatr Neurol 48(3):227–231
Cited by 27 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. PNPO–PLP axis senses prolonged hypoxia in macrophages by regulating lysosomal activity;Nature Metabolism;2024-05-31
2. The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study;Epilepsy Research;2023-02
3. PNPO-PLP Axis Senses Prolonged Hypoxia by Regulating Lysosomal Activity;2022-10-30
4. A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate;European Journal of Paediatric Neurology;2022-07
5. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions;Epilepsia;2022-05-03
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