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 ...
It was on this date 23 years ago that his brother James Thomas (J.T.) passed away at 11 months from Krabbe Disease. “My brother passed away on St. Patrick’s Day,” said Ford, the youngest of ...