Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
作者信息
Larnaout A, Belal S, Miladi N, Kaabachi N, Mebazza A, Dhondt J L, Hentati F
机构信息
Service de Neurologie, National Institute of Neurology, Tunis, Tunisia.
出版信息
Neuropediatrics. 1998 Dec;29(6):322-3. doi: 10.1055/s-2007-973586.
PMID:10029353
Abstract
Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.
摘要
Zotero 插件