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Updated: Jul 12, 2025

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Isolation and Cannulation of Cerebral Parenchymal Arterioles
Published on: May 23, 2016
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与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑 adrenoleukodystrophy是指与X结合的大脑
Cara Louise Weldrick1, Peter Boers2, Patrick Kiely3
1Neurology, University Hospital Limerick, Limerick, Ireland caraweldrick@yahoo.co.uk.
BMJ case reports
|October 31, 2023
概括
这项案例研究突出了X相关的上腺核衰竭 (X-ALD),呈现为瘤性多发性硬化症. 通过基因检测进行早期诊断对于管理这种罕见的代谢障碍至关重要.
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:
- 与X相关的上腺核衰竭 (X-ALD) 是一种罕见的遗传代谢疾病,影响上腺,大脑和脊髓.
- 它是由ABCD1基因的突变引起的,导致非常长链脂肪酸 (VLCFA) 的积累.
- X-ALD可以呈现出各种神经系统症状,经常模仿其他疾病,如多发性硬化症.
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