坦日尔病的非典型表现 - - 扩大临床谱
Dipti Baskar1, Seena Vengalil1, Saraswati Nashi1
1Departments of Neurology and.
Journal of clinical neuromuscular disease
|August 23, 2023
概括
坦吉尔病是一种代谢障碍,可以表现为异常的神经症状,影响前角细胞. 这一案例突显了一个年轻女孩具有新的ABCA1基因突变的新奇表现.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 坦吉尔病是一种自体逆变性疾病,其特征是严重的HDL缺乏和脂质积累.
- 它通常表现为神经肌肉症状,包括外围神经病变.
- 前角细胞参与是一个不常见的表现.
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