发展中国家三级医院新生儿先天性代谢错误发生率分析

R. Mizanur, Fatema Kanij, Shahidullah
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引用次数: 14

摘要

术语“先天性代谢错误”(IEM),也被称为先天性代谢疾病,被描述为遗传性酶的缺乏或蛋白质结构和功能的改变,导致可能具有病理后果的代谢紊乱。这些疾病导致底物积累,引起轻微到严重的神经和精神表现,导致终身残疾或死亡。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidence of Inborn Errors of Metabolism in Sick Neonates in a Tertiary Care Hospital in Developing Country
The term “inborn errors of metabolism” (IEM), also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [1]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [2].
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