GLUTARIC ACIDURIA TYPE-I - A NEW CASE-REPORT

被引：0
|
作者：
YACOUB, M
TABARKI, B
SALEM, N
HASSEN, A
ABROUG, S
HARBI, A
ESSOUSSI, AS
机构：
来源：
ANNALES DE PEDIATRIE | 1994年 / 41卷 / 03期
关键词：
GLUTARIC ACIDURIA TYPE-I; COMPUTED TOMOGRAPHY; TREATMENT;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The case of a ten month old girl with glutaric aciduria type I is reported. Paroxysmic dystonia, opisthotonos, athetosis, and mental deterioration were the presenting manifestations. Chromatography of urinary organic acids showed a markedly increased level of glutaric acid. The clinical, biochemical, and neuroradiologic features of glutaric acid type I are reviewed. Treatment and antenatal diagnosis are discussed.
引用
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页码：185 / 187
页数：3
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