Article
Biochemical basis of late-onset neurolipidoses.
Developmental neuroscience - 1 Jan 1991
Conzelmann E, Sandhoff K
Abstract excerpt
The occurrence and the tremendous phenotypic variability of late-onset neurolipidosis variants are explained on the basis of a simple kinetic model that describes the correlation between residual activity of a deficient lysosomal enzyme and the degradation rate of its substrate in the lysosome.
Topics
- Adult
- Brain Diseases, Metabolic
- Cells, Cultured
- Child
- Clinical Enzyme Tests
- Fibroblasts
- Glycolipids
- Humans
- Infant
- Kinetics
- Leukocytes
- Lipid Metabolism, Inborn Errors
- Lysosomes
- Models, Biological
- Phenotype