相关实验视频
Updated: Jul 16, 2026
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Glutamine Flux Imaging Using Genetically Encoded Sensors
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教学神经图像:Glutaredoxin-5相关的变异性非凯托性高糖血症
Sayoni Roy Chowdhury1, Rekha Mittal1, Richa Yadav1
1From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India.
Neurology
|January 4, 2024
概括
葡萄糖素-5 (GLRX5) 基因的新型遗传突变导致一名年轻男孩患上罕见的白脑病变. 这种情况导致了严重的运动回归和神经系统缺陷.
科学领域:
- 神经遗传学 神经遗传学
- 线粒体生物学 线粒体生物学
- 神经退行性疾病 神经退行性疾病
背景情况:
- 线粒体功能障碍与各种神经系统疾病有关.
- 谷氨素-5 (GLRX5) 在铁的稳态和氧化应激反应中起作用.
- 白细胞大脑病是一种影响大脑的白质疾病.
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