Suppr超能文献

[Mitochondrial encephalopathies].

作者信息

Castro-Gago M, Novo-Rodríguez M I, Pintos-Martínez E, Campos Y, Arenas J, Eirís-Puñal J

机构信息

Departamento de Pediatría, Hospital Clínico-Universitario, Complejo Hospitalario Universitario, SERGAS, Santiago de Compostela, España.

出版信息

Rev Neurol. 2000;31(3):263-82.

PMID:10996928
Abstract

OBJECTIVE

We carry out a review of the current basic genetic, biochemical, clinical, diagnostic and therapeutic aspects of mitochondrial cytopathies due to deficiencies in the mitochondrial respiratory chain complexes, which appear clinically during childhood and/or adolescence.

DEVELOPMENT

The clinical description has been divided into two groups: mitochondrial cytopathies secondary to alterations of mitochondrial DNA (mtDNA) and mitochondrial cytopathies secondary to alterations of the nuclear DNA (nDNA); we also consider about the importance of such conditions at this age.

摘要

相似文献

1
[Mitochondrial encephalopathies].
Rev Neurol. 2000;31(3):263-82.
2
[Mitochondrial encephalomyopathies starting in childhood and adolescence].[始于儿童期和青春期的线粒体脑肌病]
Rev Neurol. 1998 Apr;26 Suppl 1:S61-71.
3
[Mitochondrial encephalopathies: where are we going?].
Rev Neurol. 1999;28(2):164-8.
4
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.线粒体神经胃肠性脑肌病（MNGIE）：一种涉及两个基因组的疾病。
Neurologist. 2004 Jan;10(1):8-17. doi: 10.1097/01.nrl.0000106919.06469.04.
5
[Molecular genetics of alterations in the mitochondrial respiratory chain].[线粒体呼吸链改变的分子遗传学]
Rev Neurol. 1998 Apr;26 Suppl 1:S27-35.
6
Does the patient have a mitochondrial encephalomyopathy?该患者是否患有线粒体脑肌病？
J Child Neurol. 1999 Nov;14 Suppl 1:S23-35. doi: 10.1177/0883073899014001051.
7
Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.儿童期脑肌病中线粒体DNA序列分析揭示了新的疾病相关变异。
PLoS One. 2007 Sep 26;2(9):e942. doi: 10.1371/journal.pone.0000942.
8
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.线粒体脑肌病伴乳酸酸中毒和卒中样发作，酷似枕叶特发性癫痫。
Pediatr Neurol. 2009 Aug;41(2):131-4. doi: 10.1016/j.pediatrneurol.2009.02.018.
9
Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction.用来自一名线粒体DNA中tRNA（甘氨酸）存在点突变患者的线粒体对ρ0细胞进行再填充会导致呼吸链功能障碍。
Hum Mutat. 1999;13(3):245-54. doi: 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B.
10
Cellular models for pathogenesis in mitochondrial diseases.线粒体疾病发病机制的细胞模型。
Curr Opin Neurol. 1996 Dec;9(6):469-72.

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