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.
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.
目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。
Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
在基因组DNA水平，应用基因突变分析的方法对肾上腺脑白质营养不良进行分子诊断十分重要。
The molecular diagnosis for X linked adrenoleukodystrophy (ALD) using mutational analysis at genomic DNA level is important.
目的对3名来自不同家系的肾上腺脑白质营养不良(ALD)携带者所怀胎儿进行产前分子诊断。
Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy (ALD).
髓磷脂不足或工作状态差可导致一系列疾病，包括影响几千个孩子的一种罕见与致命的遗传病：小儿脑白质营养不良。
Insufficient or poorly working myelin causes a number of diseases, including a rare and fatal congenital disorder called pediatric leukodystrophy that affects thousands of children.
PMD中不会有异常的强化，相反其他的脱髓鞘病变如肾上腺脑白质营养不良症其外周活动性的脱髓鞘病变可以强化。
Abnormal enhancement is not seen in PMD as opposed to some demyelinating disorders such as adrenal leukodystrophy in which enhancement is seen at the periphery of the active demyelination.
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.
为了排除基因组dna中假基因的干扰，利用扩增阻滞突变系统，成功地分析了一个肾上腺脑白质营养不良(R 6 17g突变)家系成员的基因型。
To avoid the interference, genomic DNA from the family members with an adrenoleukodystrophy gene mutation (R617G mutation) was analyzed by amplification refractory mutation system.
为了排除基因组dna中假基因的干扰，利用扩增阻滞突变系统，成功地分析了一个肾上腺脑白质营养不良(R 6 17g突变)家系成员的基因型。
To avoid the interference, genomic DNA from the family members with an adrenoleukodystrophy gene mutation (R617G mutation) was analyzed by amplification refractory mutation system.
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