Article
Phenotype variations in Gaucher disease.
La Revue de medecine interne - 1 Mar 2006
Mistry P, Germain D P
Abstract excerpt
The Gaucher phenotype is very complex and it cannot be simply evaluated on the basis of blood counts or splenomegaly, but by the analysis of all disease compartments. To establish the diagnosis of Gaucher disease, biochemical assay of glucocerebrosidase activity is the most reliable method. However, it can be supplemented by molecular diagnosis, which may be helpful to predict the severity and the rate of...
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