An Unusual Presentation of Succinic Semialdehyde Dehydrogenase Deficiency: A Fatal Case of Severe Progressive Seizures in a Four-Month-Old Infant
Author:
Publisher
Springer Science and Business Media LLC
Reference7 articles.
1. Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism;Malaspina P;Neurochem Int,2016
2. Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: An update on pharmacological and enzyme-replacement therapeutic strategies;Vogel KR;J Inherit Metab Dis,2018
3. Succinic semialdehyde dehydrogenase deficiency: An update;Didiášová M;Cells,2020
4. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism;Pearl PL;Brain Dev,2011
5. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency;Akaboshi S;Hum Mutat,2003
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