英国研究基础设施中的虚拟学术单位有益于婴儿、儿童和年轻人

Williams An
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引用次数: 0

摘要

术语“先天性代谢错误”(IEM),也被称为先天性代谢疾病,被描述为遗传性酶缺乏或蛋白质结构和功能改变,导致可能具有病理后果的代谢紊乱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Virtual Academic Units within UK Infrastructure for Research that Benefits Infants, Children and Young People
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.
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