甲酸脱酶缺乏中风类事件是缺血性,代谢性还是两者兼而有之的?
Mehri Sounira1, Josef Finsterer2,3
1Biochemistry Laboratory, LR12ES05 "Nutrition-Functional Foods and Vascular Health", Faculty of Medicine, Monastir, Tunisia.
概括
一个6岁的女孩出现神经系统症状的酸盐脱酶 (PDHC) 缺乏. 这项研究质疑了类似中风的病变的诊断,并提出了对大脑异常的替代解释.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 酸盐脱酶 (PDHC) 缺乏症是一种罕见的遗传疾病,影响细胞代谢.
- 这种情况可能会导致严重的神经障碍和发育迟缓.
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