1·Objective To investigate the typical clinical manifestations, biochemical change and treatment of X-linked 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。
2·Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy (ALD).
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。
3·Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
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。