Article
Gaucher disease and other storage disorders.
Hematology. American Society of Hematology. Education Program - 1 Jan 2012
Grabowski Gregory A
Abstract excerpt
In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a "primary epithelioma of the spleen." The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have...
Topics
- Adolescent
- Adult
- Apoptosis
- Ceramides
- Enzyme Therapy
- Female
- Gaucher Disease
- Genotype
- Hematology
- Humans
- Lysosomal Storage Diseases
- Lysosomes
- Male
- Models, Biological
- Models, Chemical
- Molecular Biology
- Phenotype
- Treatment Outcome