期刊
BRAIN & DEVELOPMENT
卷 32, 期 2, 页码 82-89出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2009.03.014
关键词
Genetic brain disease; Inborn error of metabolism; Diagnosis; Neuroradiology
资金
- Federal Ministry of Education and Research [01GM0641]
Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list. (C) 2009 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据