• 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

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion.

作者信息

Luder A, Barash V

机构信息

Ziv Hospital, Safed, Israel.

出版信息

J Inherit Metab Dis. 1994;17(3):298-300. doi: 10.1007/BF00711812.

DOI:10.1007/BF00711812
PMID:7807936
Abstract
摘要

相似文献

1
Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion.伴有糖尿病、范科尼综合征和线粒体DNA缺失的复合体I缺乏症
J Inherit Metab Dis. 1994;17(3):298-300. doi: 10.1007/BF00711812.
2
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.一例德托尼-德布雷-范科尼综合征和皮尔逊综合征患者线粒体DNA的缺失
Pediatr Nephrol. 1994 Apr;8(2):164-8. doi: 10.1007/BF00865468.
3
Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.致命性线粒体肌病、乳酸性酸中毒及与线粒体tRNALeu(UUR)基因第3251位A→G异质性突变相关的复合体I缺乏症
Hum Genet. 1996 Mar;97(3):269-73. doi: 10.1007/BF02185750.
4
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.散发性线粒体肌病中肌肉线粒体DNA的父系遗传缺失。
Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709.
5
De Toni-Debré-Fanconi syndrome due to a palindrome-flanked deletion in mitochondrial DNA.
Pediatr Nephrol. 2004 Jul;19(7):790-3. doi: 10.1007/s00467-004-1473-5. Epub 2004 May 7.
6
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.婴儿线粒体肌病中人类线粒体转录因子h-mtTFA的缺乏与线粒体DNA耗竭有关。
Hum Mol Genet. 1994 Oct;3(10):1763-9. doi: 10.1093/hmg/3.10.1763.
7
Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency.
Acta Paediatr. 1993 Dec;82(12):1079-81. doi: 10.1111/j.1651-2227.1993.tb12818.x.
8
Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus.与糖尿病相关的母系遗传的线粒体DNA部分直接串联重复。
Hum Mol Genet. 1993 Oct;2(10):1619-24. doi: 10.1093/hmg/2.10.1619.
9
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.一名范可尼-比克综合征患者的继发性呼吸链缺陷。
J Inherit Metab Dis. 2002 Sep;25(5):379-84. doi: 10.1023/a:1020147716990.
10
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.伴有tRNA（Leu（UUR））突变及对核黄素敏感的复合体I缺陷的线粒体肌病
J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8.

引用本文的文献

1
Growth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report.4977碱基对线粒体DNA缺失所致范科尼综合征病程中的生长发育迟缓：一例报告
Children (Basel). 2021 Oct 4;8(10):887. doi: 10.3390/children8100887.
2
Congenital rickets.先天性佝偻病
Eur J Pediatr. 1996 Sep;155(9):830-1. doi: 10.1007/BF02002919.
3
Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.由于呼吸链复合体III缺陷导致的新生儿德托尼-德布雷-范科尼综合征。

本文引用的文献

1
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome.卡恩斯-塞尔综合征患者克隆培养物中线粒体基因组的异质性。
Biochem Biophys Res Commun. 1989 Apr 28;160(2):765-71. doi: 10.1016/0006-291x(89)92499-6.
2
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881.
3
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.在线粒体疾病的骨骼肌纤维节段中，缺失突变体在线粒体基因组功能上对野生型具有显性作用。
Eur J Pediatr. 1995 Nov;154(11):915-8. doi: 10.1007/BF01957505.
Cell. 1990 Jul 13;62(1):43-9. doi: 10.1016/0092-8674(90)90238-a.
4
Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.线粒体肌病：基因缺失、生化缺陷与临床综合征的差异
J Neurol. 1990 Feb;237(1):5-10. doi: 10.1007/BF00319660.
5
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.一名线粒体DNA缺失患者的皮尔逊综合征和线粒体脑肌病
Am J Hum Genet. 1991 Jan;48(1):39-42.
6
Duplications of mitochondrial DNA: implications for pathogenesis.
J Inherit Metab Dis. 1992;15(4):487-98. doi: 10.1007/BF01799607.
7
Deletions of the mitochondrial genome.线粒体基因组的缺失
J Inherit Metab Dis. 1992;15(4):480-6. doi: 10.1007/BF01799606.
8
Clinical aspects of mitochondrial disorders.
J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603.
9
Diseases of the mitochondrial DNA.
Annu Rev Biochem. 1992;61:1175-212. doi: 10.1146/annurev.bi.61.070192.005523.