Biotin-thiamine-responsive basal ganglia disease: A case report
Author:
Publisher
Elsevier BV
Subject
Radiology, Nuclear Medicine and imaging
Reference11 articles.
1. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases;Alfadhel;Orphanet J Rare Dis,2013
2. Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment;Kassem;Am J Neuroradiol,2014
3. Biotin-responsive basal ganglia disease maps to 2q36. 3 and is due to mutations in SLC19A3;Zeng;Am J Hum Genet,2005
4. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment;Algahtani;Neurol Res,2017
5. Biotin-responsive basal ganglia disease: a novel entity;Ozand;Brain,1998
Cited by 5 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. Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene;Human Cell;2024-07-09
2. Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives;International Journal of Molecular Sciences;2024-06-14
3. Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene;2024-03-06
4. Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants;Orphanet Journal of Rare Diseases;2023-09-05
5. Biotin-Thiamine Responsive Basal Ganglia Disease: A Retrospective Review of the Clinical, Radiological and Molecular Findings of Cases in Kuwait with Novel Variants;2023-03-02
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