inborn errors of metabolism

Renal replacement therapy in the treatment of con-firmed or suspected inborn errors of metabolism

确诊或疑诊为先天性代谢缺陷患儿的肾脏替代疗法

Most cases of DIP are related to cigarette smoking, but a few are idiopathic or associated with rare inborn errors of metabolism.

大多数DIP病例与吸烟有关，但少数为特发性或伴有先天性代谢缺陷。

misdiagnosis analysis of 23 cases with inborn errors of metabolism

23例先天代谢病误诊分析

continuous blood purifiltration in the treatment of inborn errors of metabolism with severe organic acidosis

连续血液净化治疗先天性代谢缺陷病重症有机酸血症

Neonatal intrahepatic cholestasis caused by citrin deficiency ( NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices.

citrin缺陷导致的新生儿肝内胆汁淤积症（NICCD）是一种以黄疸、肝功能异常为主要临床表现的遗传代谢病。

methods: the clinical data and misdiagnosis reasons of 23 children with inborn errors of metabolism were analyzed.

方法：对23例先天代谢缺陷病患儿临床资料及误诊原因进行分析。

A large number of inborn errors of metabolism are known in man.

人们了解到在人类中存在大量的先天性代谢缺陷.

most cases of dip are related to cigarette smoking, but a few are idiopathic or associated with rare inborn errors of metabolism .

大多数DIP病例与吸烟有关，但少数为特发性或伴有先天性代谢缺陷。

medical testing (test for inborn errors of metabolism)

医学检验（遗传性代谢缺陷检测）

these data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism.

这些数据都具有深刻影响的可行性酶替代疗法的八个不同的先天性代谢异常。

how to cope with new challenges in the diagnosis and management of inborn errors of metabolism

应对遗传性代谢病诊断和治疗的新挑战

history and prospect of the neonatal screening program for inborn errors of metabolism

新生儿遗传性代谢病筛查的回顾和展望