先天性代谢缺陷所致神经病变的最新进展
Update on Neuropathies in Inborn Errors of Metabolism.
作者信息
Pająk Renata, Mendela Ewelina, Będkowska Natalia, Paprocka Justyna
机构信息
Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
出版信息
Brain Sci. 2021 Jun 8;11(6):763. doi: 10.3390/brainsci11060763.
Abstract
Neuropathies are relatively common in inborn errors of metabolism (IEMs); however, due to the early onset and severe, progressive course of many IEMs, they have not been very well researched yet. This article aims to review and compare neuropathies in inborn errors of metabolism, mostly with childhood and juvenile onset. Some of these diseases are treatable if diagnosed early and in many cases, the therapy can not only slow down disease progression, but can also reverse the changes already made by the condition.
摘要
神经病在先天性代谢缺陷（IEMs）中相对常见；然而，由于许多IEMs起病早且病情严重、呈进行性发展，它们尚未得到很好的研究。本文旨在综述和比较先天性代谢缺陷中的神经病，主要是儿童期和青少年期起病的情况。其中一些疾病如果早期诊断是可治疗的，而且在许多情况下，治疗不仅可以减缓疾病进展，还可以逆转该病症已经造成的改变。
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