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尿素循环障碍急性期表现和管理

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尿素循环障碍急性期以高氨血症发作为主要特征,具有高致残、高病死率风险.应尽早识别和诊断尿素循环障碍急性期患儿,快速控制急性期发作对提高尿素循环障碍患儿生存率和改善疾病预后具有重要意义.
Acute presentation and management of urea cycle disorders
The acute presentation of urea cycle disorders is characterized by hyperammonemia,with high disability and mortality risks.Patients with urea cycle disorders at acute stage should be identified and diagnosed as early as possible,and the quick control ofthe acute attack would make a great significance in improving the survival and prognosis of the patients with urea cycle disorders.

urea cycle disordersacute hyperammonemiadiagnosistreatment

孙承凯、邱文娟

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上海交通大学医学院附属新华医院上海市儿科医学研究所儿内分泌遗传代谢科,上海 200092

尿素循环障碍 急性高氨血症 诊断 治疗

2024

中国实用儿科杂志
中国医师协会,中国实用医学杂志社

中国实用儿科杂志

CSTPCD北大核心
影响因子:1.314
ISSN:1005-2224
年,卷(期):2024.39(11)