Author:
Külkens S.,Harting I.,Sauer S.,Zschocke J.,Hoffmann G. F.,Gruber S.,Bodamer O. A.,Kölker S.
Abstract
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Cited by
86 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献