Center for Research and Diagnosis of Gaucher Disease
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A research laboratory is dedicated to the study of enzymatic and genetic alterations in Gaucher disease, a rare storage disorder caused by mutations in the gene encoding for the glucocerebrosidase enzyme, which alter or abolish the enzyme activity. The activities of this Research and Diagnosis Center do not require reservations or a medical prescription.
The study is carried out by sending a blood sample as specified in the forms.
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