A new case of dihydropyrimidine dehydrogenase deficiency.
作者信息
Brockstedt M, Jakobs C, Smit L M, van Gennip A H, Berger R
机构信息
Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
出版信息
J Inherit Metab Dis. 1990;13(1):121-4. doi: 10.1007/BF01799339.
PMID:2109146
Abstract
We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.
摘要
Zotero 插件