Philippe gaucher biography samples
Gaucher pronunciation
Philippe gaucher biography samples...
What is Gaucher disease? Are there treatments?
F. Scott Furbish, Associate Director of Medical Affairs at Genzyme Corporation, gives this response:
Image: NIH PHILIPPE CHARLES ERNEST GAUCHER described the first case of the disease that bears his name in 1882 in his doctoral thesis. |
Gaucher (pronounced Go-SHAY) disease is a rare genetic disorder affecting fewer than 10,000 people worldwide.
Gaucher's disease inheritance
It is caused by deficiency of the enzyme glucocerebrosidase, which breaks down a certain lipid, or fat, in the body's cells called glucocerebroside. Without this enzyme, the lipid builds up, causing the disease's symptoms.
The type and severity of symptoms can vary widely among individuals with the disease. Symptoms include anemia, fatigue, and enlarged liver and spleen. Patients can also suffer from easy bleeding and bruising, and deterioration of bones, leading to frequent fractures.
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