Article
[Lysosomal storage disease: a group of genetic neurodegenerative disorders].
Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993
Suzuki Y
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...
Topics
- Child
- Child, Preschool
- Humans
- Infant
- Lysosomal Storage Diseases
- Lysosomes
- Mutation
- Polymerase Chain Reaction