脑白质营养不良 leukodystrophy ; adreno leukodystrophy ; X-linked adrenoleukodystrophy ; Leukodystrophies
异染性脑白质营养不良 [医] metachromatic leukodystrophy ; MLD ; metachromatic leukoencephalopathy ; maladie de scholz
肾上腺脑白质营养不良 adrenoleukodystrophy ; ALD ; ALD adrenoleukodystrophy ; Adrenal leukodystrophy
克拉勃脑白质营养不良 Krabbe leukodystrophy
脑白质营养不良蛋白 ALDP
同染性脑白质营养不良 metachromatic leukodystrophy
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.
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).
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