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[神经代谢性疾病。分类、临床方面及诊断程序参考文献]

[Neurometabolic diseases. References for classification, clinical aspects and diagnostic procedures].

作者信息

Schädler G, Haverkamp F, Fichsel H

机构信息

Abt. Allg. Pädiatrie, Universität Bonn.

出版信息

Klin Padiatr. 1992 Nov-Dec;204(6):393-404. doi: 10.1055/s-2007-1025379.

Abstract

Diseases caused by neuro-metabolic or neuro-degenerative disorders often lead to diagnostic difficulties, because of their rarity and numerous quantity. The present report tries to combine older classifications according to anatomic aspects with the newer ones underlying biochemical-functional points of view. Then the most important cardinal symptoms in a synoptic demonstration are put in relation to the most considerable neuro-metabolic disorders. Tables concerning age-related diseases and informations on diagnostic methods of importance are presented.

摘要

由神经代谢或神经退行性疾病引起的疾病,往往因其罕见性和种类繁多而导致诊断困难。本报告试图将基于解剖学方面的旧分类与基于生化功能观点的新分类结合起来。然后,在概要展示中,将最重要的主要症状与最显著的神经代谢紊乱联系起来。还列出了与年龄相关疾病的表格以及重要诊断方法的信息。

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