A hereditary disease in which the metabolism and storage of fats is abnormal. It results in bone fragility, neurological disturbance, anemia, and enlargement of the liver and spleen.‘But it soon added testing for a range of other conditions that are not always fatal, including conditions that are late-onset or that range in the severity of their expression - such as cystic fibrosis and Gaucher's disease.’
- ‘He adds that this immune defect may also be present in other diseases where a build-up of waste and plaques occur, such as in cardiovascular disease and Gaucher's disease.’
- ‘Like them, we are concerned with the increased number of patients with Gaucher's disease who develop pulmonary hypertension.’
- ‘Gene therapy is feasible, and some preliminary studies have already been carried out in Gaucher's disease.’
- ‘It is expected to materially change the way in which patients suffering from Gaucher's disease, a disorder of the liver and spleen, will be treated in the future.’
Early 20th century named after Phillippe C. E. Gaucher (1854–1918), French physician.