首页> 美国卫生研究院文献>BMC Neurology >Two novel ECHS1 variants affecting splicing and reducing enzyme activity is associated with mitochondrial encephalopathy in infant: a case report

【2h】

Two novel ECHS1 variants affecting splicing and reducing enzyme activity is associated with mitochondrial encephalopathy in infant: a case report

机译：影响婴儿剪线并降低酶活性的两种新型ECHS1变体与婴儿线粒体脑病有关：一例病例报告

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
引文网络
相似文献
相关主题

摘要

The MRI assay of the patient. ( - ) DWI image; ( - ) T2 image;( - )T2 FLAIR image

机译：患者的MRI分析。（-）DWI图像；（-）T2图像;（-）T2 FLAIR图像

著录项

期刊名称 BMC Neurology
作者
Miaojuan Wu; Wenqi Gao; Zhifang Deng; Zhisheng Liu; Jiehui Ma; Han Xiao; Yu Xu; Dan Sun;
展开▼
作者单位

展开▼
年(卷),期 2020(20),-1
年度 2020
页码 -1
总页数 8
原文格式 PDF
正文语种
中图分类神经病学;
关键词
Mitochondrial encephalopathy; ECHS1; Variants;

机译：线粒体脑病;ECHS1;变异;

相似文献

外文文献
中文文献
专利

1. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement [J] . Akira Ohtake, Alexander M. Zink, Andreacute, Annals of Clinical and Translational Neurology . 2015,第5期

机译：ECHS1缺乏会导致线粒体脑病并心脏受累
2. Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy [J] . Meldau S., De Lacy R.J., Riordan G.T.M., Clinical Genetics: An International Journal of Genetics in Medicine . 2018,第5期

机译：识别24个南非婴儿的单一MPV17无意义相关的改变剪接变体，线粒体神经肝病
3. Detection and characterisation of novel alternative splicing variants of the mitochondrial folate enzyme MTHFD2 [J] . Nicolaidou Vicky, Papaneophytou Christos, Koufaris Costas Molecular biology reports . 2020,第9期

机译：线粒体叶酸酶MTHFD2的新型替代剪接变体的检测与表征
4. Low Irradiance Light Exposure Alters the Activity of Key Enzymes in the Mitochondrial Electron Transport Chain [C] . Nathaniel J. Pope, Michael L Denton Conference on Mechanisms of Photobiomodulation Therapy . 2020

机译：低辐照度曝光会改变线粒体电子传输链中的关键酶活性的活性
5. Characterization of the biochemical activities associated with human FATP2 splice variants. [D] . Melton, Elaina M. 2012

机译：与人类FATP2剪接变体相关的生化活性的表征。
6. Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up [O] . Irene C. Huffnagel, Egbert J. W. Redeker, Liesbeth Reneman, 2018

机译：ECHS1缺乏症的线粒体脑病和短暂性3-甲基谷氨酸酸尿症：长期随访
7. Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report [O] . Miaojuan Wu, Wenqi Gao, Zhifang Deng, 2020

机译：两种新的ECHS1变体，影响剪接和还原酶活性，与婴儿的线粒体脑病相关：案例报告

Two novel ECHS1 variants affecting splicing and reducing enzyme activity is associated with mitochondrial encephalopathy in infant: a case report

摘要

著录项

引文网络

相似文献

相关主题

期刊订阅