• 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

Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.

作者信息

Trijbels J M, Ruitenbeek W, Sengers R C, Janssen A J, van Oost B A

机构信息

Department of Pediatrics, University Hospital Nijmegen, The Netherlands.

出版信息

J Inherit Metab Dis. 1996;19(2):149-52. doi: 10.1007/BF01799416.

DOI:10.1007/BF01799416
PMID:8739952
Abstract
摘要

相似文献

1
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.一名患有复合体I缺乏症患者的良性线粒体脑肌病
J Inherit Metab Dis. 1996;19(2):149-52. doi: 10.1007/BF01799416.
2
Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies.
Pediatr Neurol. 1993 Mar-Apr;9(2):151-4. doi: 10.1016/0887-8994(93)90054-g.
3
Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita.一名患有先天性多发性关节挛缩症的新生儿出现破碎红纤维和复合体I缺乏症。
Pediatr Neurol. 1997 Oct;17(3):249-51. doi: 10.1016/s0887-8994(97)00082-9.
4
Flow cytometric evaluation of defects of the mitochondrial respiratory chain.
J Child Neurol. 1999 Aug;14(8):518-23. doi: 10.1177/088307389901400807.
5
Familial spastic paraparesis. Is it a mitochondrial disorder?家族性痉挛性截瘫。它是一种线粒体疾病吗?
Pediatr Neurosurg. 1995;23(4):225-6. doi: 10.1159/000120963.
6
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.伴有巨头畸形、心肌病和复合体I缺乏的新型家族性线粒体脑病。
Ann Neurol. 1997 Oct;42(4):661-5. doi: 10.1002/ana.410420419.
7
Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.对患有脑病的儿童中编码功能重要的复合体I亚基的核基因进行序列分析。
J Mol Med (Berl). 2005 Oct;83(10):786-94. doi: 10.1007/s00109-005-0712-y. Epub 2005 Sep 3.
8
Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy.一名线粒体脑肌病患者中热休克蛋白60(hsp60)的合成减少及线粒体导入效率低下。
Biochim Biophys Acta. 1994 Nov 29;1227(3):200-6. doi: 10.1016/0925-4439(94)90096-5.
9
Systemic infantile complex I deficiency with fatal outcome in two brothers.两兄弟患有全身性婴儿型复合体I缺乏症并导致致命后果。
Neuropediatrics. 1998 Feb;29(1):43-5. doi: 10.1055/s-2007-973533.
10
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.由于线粒体蛋白质合成缺陷导致的新生儿线粒体脑肌病。
J Neurol Sci. 2008 Dec 15;275(1-2):128-32. doi: 10.1016/j.jns.2008.08.028. Epub 2008 Oct 2.

引用本文的文献

1
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.人类病理学中线粒体复合物I的人类核编码酰基载体亚基(NDUFAB1)
J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569.
2
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.人类复合体I缺乏症中一种新的致病突变的证明:编码18-kD(AQDQ)亚基的核基因中存在5个碱基对的重复。
Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716.

本文引用的文献

1
Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.
Biochim Biophys Acta. 1993 Jun 19;1181(3):261-5. doi: 10.1016/0925-4439(93)90030-5.
2
Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity.伴有琥珀酸细胞色素C还原酶活性降低的良性线粒体肌病
Acta Neurol Scand. 1994 Oct;90(4):281-4. doi: 10.1111/j.1600-0404.1994.tb02722.x.
3
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.由可逆性细胞色素c氧化酶缺乏引起的良性婴儿线粒体肌病。
Ann Neurol. 1983 Aug;14(2):226-34. doi: 10.1002/ana.410140209.
4
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.一种线粒体脑肌病:首例辅酶Q水平存在明确缺陷的病例。
Eur J Pediatr. 1986 Feb;144(5):441-4. doi: 10.1007/BF00441735.
5
Benign reversible muscle cytochrome c oxidase deficiency: a second case.
Neurology. 1987 Jan;37(1):64-7. doi: 10.1212/wnl.37.1.64.
6
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.一名患有乳酸性酸中毒和意外猝死患者的丙酮酸脱氢酶α和β亚基缺乏症
Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401.
7
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.伴有细胞色素c氧化酶缺乏的可逆性线粒体肌病
Arch Dis Child. 1992 Aug;67(8):1033-5. doi: 10.1136/adc.67.8.1033.