目的:研究X-连锁肾上腺脑白质营养不良的临床、生化改变及治疗情况。
Objective To investigate the typical clinical manifestations, biochemical change and treatment of X-linked adrenoleukodystrophy.
目的对5例x -连锁肾上腺脑白质营养不良(X - ALD)患儿及其中2例的母亲进行ABCD 1基因突变分析。
Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy (X-ALD) patients and 2 cases of their mothers.
目的:探讨肾上腺泉脑白质营养不良的病理、临床及MRI表现。
Objective to study the pathology, clinical symptomatology and MRI findings of adrenoleukodystrophy.
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