Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 TIMM50 TIMM50 gene mutation

Mir Ali; Hadab Safeya; Sammak Mohammed; Alhazmi Rami; Housawi Yousef; Bashir Shahid

首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 TIMM50 TIMM50 gene mutation

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Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 TIMM50 TIMM50 gene mutation

机译：通过TIMM50 TIMM50 TIMM50基因突变引起的3-甲基戊酸尿尿的患者中，用vigabatrin完成癫痫痉挛的分辨率

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《Clinical Genetics: An International Journal of Genetics in Medicine》 |2020年第1期|共2页
作者
Mir Ali; Hadab Safeya; Sammak Mohammed; Alhazmi Rami; Housawi Yousef; Bashir Shahid;
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作者单位

Department of Pediatric neurologyKing Fahad Specialist Hospital Dammam (KFSHD)Dammam Saudi Arabia;

Department of Pediatric neurologyKing Fahad Specialist Hospital Dammam (KFSHD)Dammam Saudi Arabia;

Department of Pathology &

Laboratory MedicineKing Fahad Specialist Hospital Dammam (KFSHD)Dammam;

Medical Imaging DepartmentKing Fahad Specialist Hospital Dammam (KFSHD)Dammam Saudi Arabia;

Genetic and Metabolic DepartmentKing Fahad Specialist Hospital Dammam (KFSHD)Dammam Saudi Arabia;

Department of Pediatric neurologyKing Fahad Specialist Hospital Dammam (KFSHD)Dammam Saudi Arabia;

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正文语种 eng
中图分类医学遗传学;
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1. Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 TIMM50 TIMM50 gene mutation [J] . Mir Ali, Hadab Safeya, Sammak Mohammed, Clinical Genetics: An International Journal of Genetics in Medicine . 2020,第1期

机译：通过TIMM50 TIMM50 TIMM50基因突变引起的3-甲基戊酸尿尿的患者中，用vigabatrin完成癫痫痉挛的分辨率
2. Mutations in TIMM50 TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology [J] . Tort Frederic, Ugarteburu Olatz, Texidó Laura, Human mutation . 2019,第10期

机译：TIMM50 TIMM50的突变通过针对线粒体生理学的关键方面而导致严重的线粒体功能障碍
3. TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non‐small cell lung cancer patients [J] . Zhang Xiupeng, Han Shuai, Zhou Haijing, Molecular Carcinogenesis . 2019,第5期

机译：TIMM50通过ERK信号传导促进肿瘤进展，并预测非小细胞肺癌患者的不良预后
4. Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions [O] . Aurelio Reyes, Laura Melchionda, Alberto Burlina, 2018

机译：TIMM50的突变会影响OxPhos依赖性代谢条件下的细胞存活
5. 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH [O] . IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P. N., 2002

机译：I型3-甲基谷氨酸酸尿症是由AUH突变引起的

Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by TIMM50 TIMM50 TIMM50 gene mutation

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