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Enzymatic and Biochemical Diagnosis of Inborn Lysosomal Diseases with Neurological Symptoms

 

作者: B. Hultberg,   P.A. Öckerman,   S. Sjöblad,  

 

期刊: European Neurology  （Karger Available online 1972）
卷期: Volume 7, issue 1-2  

页码: 101-118

 

ISSN:0014-3022

 

年代: 1972

 

DOI:10.1159/000114417

 

出版商: S. Karger AG

 

关键词: Amaurotic idiocies;Aspartylglucosaminuria;Fabry’s disease;Fucosidosis;Gangliosidosis;Gaucher’s disease;Hunter’s syndrome;Krabbe’s disease;Lysosomal diseases;Morquio syndrome;Maroteaux-Lamy syndrome;Metachromatic leucodystrophy;Muco

 

数据来源: Karger

 

摘要:

Inborn lysosomal diseases with neurological symptoms are reviewed with special reference to the present possibilities of establishing a diagnosis with the help of enzymatic and biochemical methods in the affected child, in the fetus and in the healthy gene-carrier.

 

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