Sporadic and familial glut1ds Italian patients: A wide clinical variability
Author:
Funder
FONDAZIONE CARIPLO
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference30 articles.
1. Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay;De Vivo;N Engl J Med,1991
2. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier;Seidner;Nat Genet,1998
3. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet;Klepper;Epilepsia,2008
4. Glucose transporter 1 deficiency syndrome and other glycolytic defects;De Vivo;J Child Neurol,2002
5. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro;Klepper;Eur J Pediatr,2003
Cited by 36 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. Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory framework;European Journal of Clinical Nutrition;2024-08-10
2. Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome;Pediatric Neurology;2024-08
3. The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review;European Journal of Pediatrics;2024-07-02
4. Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study;Movement Disorders;2024-05-09
5. Microcephaly, Dystonia, and Periodic Ataxia in a 10-year-old Boy;Pediatrics in Review;2023-07-01
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