Article
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
Journal of inherited metabolic disease - 1 Jan 1995
Michelakakis H, Dimitriou E, Van Weely S, Boot R G, Mavridou I, Verhoek M, Aerts J M
Abstract excerpt
Gaucher disease is the most frequent lysosomal storage disease in Greece, accounting for 24% of all lysosomal disorders diagnosed during the last 13 years at the Institute of Child Health in Athens. The nature of the defects in glucocerebrosidase in Greek Gaucher patients with non-neuronopathic (...
Topics
- Cells, Cultured
- DNA
- DNA Mutational Analysis
- Fibroblasts
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Greece
- Humans