IEM:先天性代谢错误
“先天性代谢错误”(Inborn Errors of Metabolism),常缩写为IEM,这一术语在医学领域,特别是人类基因组和遗传病研究中被广泛使用。采用缩写形式IEM不仅便于快速书写和交流,也有助于专业人员高效识别和讨论这类由基因突变引起的代谢功能异常疾病。
Inborn Errors of Metabolism具体释义
Inborn Errors of Metabolism的英文发音
例句
- 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。
- 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。
- 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。
- Objective To improve pediatricians ' knowledge of inborn errors of metabolism in neonatal period. Make the diagnosis and treatment as early as possible.
- 目的提高儿科医生对新生儿期遗传代谢病的认识,做到早期诊断、早期治疗。
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