克拉伯病(Krabbe disease)于1916年由丹麦儿科医师Krabbe首先报道,因此称为Krabbe病,这种疾病存在基因缺陷,引起半乳糖脑苷-β-半乳糖苷酶缺乏,是导致主要累及脑白质的遗传代谢性疾病。在这篇文章中,研究人员针对半乳糖脑苷脂酶的结构,解析了这种疾病 ...
As Paige and her husband settled into life as a family of three, they got a call that their daughter, Kelsey Anne, showed a high risk for Krabbe disease. It’s a rare genetic disorder that ...
The distribution of diagnosed leukoencephalopathies was as follows: metachromatic leukodystrophy 62, X-linked adrenoleukodystrophy 60, Krabbe disease 39, Canavan disease 16, Alexander disease 13 ...
一些您可能无法访问的结果已被隐去。
显示无法访问的结果