A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

Published:2024-09 Issue:9 Volume:47 Page:4090-4092
ISSN:1015-9584
Container-title:Asian Journal of Surgery
language:en
Short-container-title:Asian Journal of Surgery

Author:

Luo Feifei,Ruan Ying,Xiong Ying,Zhang Haiyang^ORCID

Publisher

Elsevier BV

Reference5 articles.

1. Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants;Yang;PLoS One,2014

2. Case report: fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse;Aquilano;Front Pediatr,2022

3. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy;Mercimek-Mahmutoglu;Pediatrics,2012

4. A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations;Dowa;Oxf Med Case Reports,2020

5. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1;Scharer;J Inherit Metab Dis,2010

同舟云学术

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