[Neonatal form of isovaleric acidemia. Apropos of a new case].
作者信息
Beauvais P, Peter M O, Barbier B
出版信息
Arch Fr Pediatr. 1985 Aug-Sep;42(7):531-3.
PMID:4083972
Abstract
The case reported concerns a 18 day-old girl who was hospitalized for severe toxemia. The nauseous smell, and significant ketonuria led us to suspect a disorder in amino-acids metabolism. Diagnosis was proven by gas chromatography. With adequate diet, evolution was favourable and the child had a normal psycho-motor development.
摘要
Zotero 插件