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Gaucher's disease

   Also found in: Medical, Encyclopedia, Wikipedia, Hutchinson 0.07 sec.
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Noun1.Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body

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Brady's first discovery led directly to Ceredase, a drug for treating the devastating symptoms of Gaucher's Disease, which afflicts fewer than 10,000 people worldwide, generally killing them before they reach adulthood.
Last month, the European Union approved a version of NB-DNJ called miglustat for Gaucher's disease, a debilitating genetic disorder.
The recent arrival on the market of a modified glucocerebrosidase (Ceredase) for Gaucher's Disease and last year's approval of PEG-adenosine deaminase for severe combined immunodeficiency disease illustrate the growing capabilities of the pharmaceutical industry to provide endogenous compounds that patients are lacking.
 
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