Filiano James J
Department of Pediatric Medicine, Dartmouth Medical School Children's Hospital at Dartmouth Hitchcock Medical Center, Lebanon, NH 03756-0001, USA.
Clin Perinatol. 2006 Jun;33(2):411-79. doi: 10.1016/j.clp.2006.03.013.
This article is designed to be a basic introduction to neurometabolic diseases (ie, inheritable inborn errors of metabolism, genetic disorders of developmental neural topography, and degenerative disorders of neural function) that present in the neonate. It is intended to assist those who provide primary care for newborns to help them recognize signs and symptoms that signify neurometabolic disease; to teach how and when to initiate a neurometabolic diagnostic sequence; and to help neurologists and pediatricians interface with geneticists and metabolists. This article is intended to inform general newborn care practitioners, not metabolists. Therefore, pathways and concepts are presented in a simplified manner for deliberate educational purposes.
本文旨在对新生儿期出现的神经代谢性疾病（即遗传性先天性代谢缺陷、发育性神经拓扑结构的遗传性疾病以及神经功能的退行性疾病）进行基本介绍。其目的是帮助那些为新生儿提供初级护理的人员识别表明神经代谢性疾病的体征和症状；教授如何以及何时启动神经代谢性诊断流程；并帮助神经科医生和儿科医生与遗传学家和代谢病专家进行沟通。本文旨在为普通新生儿护理从业者提供信息，而非代谢病专家。因此，为了达到特定的教育目的，对相关途径和概念进行了简化介绍。
