换一批Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
第一作者：
Takehiro,Hayashi
第一单位：
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
作者：
医学主题词
成年人(Adult);脑(Brain);脑苷脂硫酸酯酶(Cerebroside-Sulfatase);女(雌)性(Female);遗传关联研究(Genetic Association Studies);杂合子(Heterozygote);人类(Humans);脑白质营养不良, 异染性(Leukodystrophy, Metachromatic);磁共振成像(Magnetic Resonance Imaging);突变, 误义(Mutation, Missense)
DOI
10.1111/j.1440-1819.2010.02169.x
PMID
21265945
发布时间
2011-01-26
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