Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2014_293
Reference36 articles.
1. Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH (2009) A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. J Inherit Metab Dis 32(Suppl 1):123–126
2. Barnerias C, Saudubray JM, Touati G et al (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52(2):e1–e9
3. Benelli C, Fouque F, Redonnet-Vernhet I et al (2002) A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction. J Inherit Metab Dis 25(4):325–327
4. Brown GK, Haan EA, Kirby DM et al (1988) “Cerebral” lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr 147(1):10–14
5. Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HH (1989a) The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. Ann N Y Acad Sci 573:360–368
Cited by 29 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. Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers;European Journal of Neurology;2024-03-18
2. Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency;Molecular Genetics and Metabolism Reports;2023-06
3. Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital;Annals of Neurology;2022-03-06
4. On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models;Current Opinion in Neurobiology;2022-02
5. Genetic diagnosis of basal ganglia disease in childhood;Developmental Medicine & Child Neurology;2022-01-05
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