Article
[Lysosomal beta-galactosidase properties and the molecular genetics of GM1 gangliosidosis].
Voprosy meditsinskoi khimii - 1 Jan 2000
Vel'tishchev Iu E, Kalaidzhieva L V
Abstract excerpt
Review of the data is presented on the hereditary disease gangliosidosis GM1 and on the enzyme beta-galactosidose, deficiency of which is responsible for this disease. Heterogeneity of the disease and existence of various forms of beta-galactosidase are considered. Possible correlation is discussed between the defects of the enzyme forms detected and the type of the disease.
Topics
- Adult
- Child
- Child, Preschool
- Enzyme Activation
- G(M1) Ganglioside
- Galactosidases
- Gangliosides
- Gangliosidoses
- Humans
- Infant
- Infant, Newborn
- Kinetics