Article
Gaucher disease: haematological presentations and complications.
British journal of haematology - 1 May 2014
Thomas Alison S, Mehta Atul, Hughes Derralynn A
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive lysosomal storage disease, caused by deficiency of the enzyme glucocerebrosidase, required for the degradation of glycosphingolipids. Clinical manifestations include hepatosplenomegaly, thrombocytopenia, bone disease and a bleeding diathesis, frequently resulting in presentation to haematologists. Historically managed by splenectomy, transfusions and orthopaedic...
Topics
- 1-Deoxynojirimycin
- Anemia
- Combined Modality Therapy
- Disease Management
- Enzyme Replacement Therapy
- Gaucher Disease
- Genetic Predisposition to Disease
- Glucosylceramidase
- Glycosphingolipids
- Hemorrhagic Disorders
- Humans
- Inflammation
- Lewy Body Disease
- Lysosomes
- Macrophage Activation
- Multiple Myeloma
- Parkinson Disease
- Splenectomy