[Lysosomal storage disease: a group of genetic neurodegenerative disorders].

Abstract excerpt

Lysosomal storage disease is a group of neurometabolic diseases mainly occurring in infancy and childhood. They were first recognized as new diseases on the basis of unique clinical manifestations or pathological findings, and then the stage of biochemical analysis of storage material and enzyme assays in tissues and cells from patients followed. Recent technological development has enabled us to look further...

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