N-乙酰谷氨酸合成酶缺乏症，第二例患者。
N-acetylglutamate synthetase deficiency, a second patient.
作者信息
Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo J P
机构信息
Department of Clinical Chemistry, Inselspital University of Berne, Switzerland.
出版信息
J Inherit Metab Dis. 1988;11(2):191-3. doi: 10.1007/BF01799871.
PMID:3139931
Abstract
A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.
摘要
本文描述了第二例N-乙酰谷氨酸合成酶缺乏症患者。该患者于出生6天时出现首发症状。尽管积极治疗，病情仍发展至致命结局。死后得以确诊。
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