• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.

作者信息

Kinoshita H, Sakuragawa N, Tada H, Naito E, Kuroda Y, Nonaka I

机构信息

Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.

出版信息

J Child Neurol. 1997 Feb;12(2):141-4. doi: 10.1177/088307389701200212.

DOI:10.1177/088307389701200212
PMID:9075024
Abstract
摘要

相似文献

1
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.硫胺素反应性丙酮酸脱氢酶复合物缺乏症中的复发性肌肉无力和共济失调。
J Child Neurol. 1997 Feb;12(2):141-4. doi: 10.1177/088307389701200212.
2
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.丙酮酸脱氢酶缺乏症表现为间歇性孤立性急性共济失调。
Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084.
3
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.间歇性周围性肌无力作为丙酮酸脱氢酶缺乏症的首发症状
Eur J Pediatr. 2006 Jul;165(7):462-6. doi: 10.1007/s00431-006-0104-5. Epub 2006 Mar 22.
4
An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
Clin Pediatr (Phila). 2021 Sep;60(9-10):432-436. doi: 10.1177/00099228211030796. Epub 2021 Jul 12.
5
Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.硫胺素反应性乳酸血症：丙酮酸脱氢酶复合物的作用
Eur J Pediatr. 1998 Aug;157(8):648-52. doi: 10.1007/s004310050903.
6
Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.表现为反复肌无力的硫胺素反应性丙酮酸脱氢酶复合物缺乏症：PDHA1基因新突变（p.T111I）的鉴定。
Pediatr Int. 2023 Jan;65(1):e15385. doi: 10.1111/ped.15385.
7
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.一名患有运动神经病的儿童的E1型丙酮酸脱氢酶缺乏症
Pediatr Res. 1993 Mar;33(3):284-8. doi: 10.1203/00006450-199303000-00016.
8
[Pyruvate dehydrogenase deficiency].[丙酮酸脱氢酶缺乏症]
Tidsskr Nor Laegeforen. 2019 Oct 14;139(15). doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22.
9
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.因硫胺素反应性丙酮酸脱氢酶缺乏导致 Leigh 病的儿童接受硫胺素治疗的结果。
Eur J Paediatr Neurol. 2000;4(3):115-7. doi: 10.1053/ejpn.2000.0278.
10
Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.一名对硫胺素治疗有反应的儿童丙酮酸脱氢酶缺乏症
Acta Paediatr. 1996 May;85(5):625-8. doi: 10.1111/j.1651-2227.1996.tb14104.x.

引用本文的文献

1
Defining the contribution of skeletal muscle pyruvate dehydrogenase α1 to exercise performance and insulin action.定义骨骼肌丙酮酸脱氢酶 α1 对运动表现和胰岛素作用的贡献。
Am J Physiol Endocrinol Metab. 2018 Nov 1;315(5):E1034-E1045. doi: 10.1152/ajpendo.00241.2018. Epub 2018 Aug 28.
2
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.硫胺素反应性和无反应性的丙酮酸脱氢酶复合物E1缺乏症患者：一项回顾性评估。
JIMD Rep. 2015;15:13-27. doi: 10.1007/8904_2014_293. Epub 2014 Apr 10.
3
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。
Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
4
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱：371 例患者的临床、生化和遗传特征。
Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.
5
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.间歇性周围性肌无力作为丙酮酸脱氢酶缺乏症的首发症状
Eur J Pediatr. 2006 Jul;165(7):462-6. doi: 10.1007/s00431-006-0104-5. Epub 2006 Mar 22.