Article
Fabry disease - current data and therapeutic approaches.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie - 1 Jan 2000
Dinu Ilie Robert, Firu Ştefan George
Abstract excerpt
Fabry disease represents an X-linked inherited disorder resulting in the accumulation of globotriaosylceramide (Gb3). This review explains the clinical manifestations and the possible therapies for this condition. Fabry disease is considered the second most frequent lysosomal storage disease. More than 1000 mutations of the galactosidase alpha (GLA) gene associated with this disorder have been identified. Pain,...
Topics
- Enzyme Replacement Therapy
- Fabry Disease
- Genetic Therapy
- Humans
- Mutation
- alpha-Galactosidase