An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. Doctor should assess the activity of the beta-glucocerebrosidase enzyme — the protein defective in Gaucher disease — in dried…
Read moreCerezyme (imiglucerase) is an approved enzyme replacement therapy designed to manage certain disease complications and ease symptoms in adults and children 2 and older with Gaucher disease type 1. It is delivered via intravenous infusions, at a dose and frequency that varies based on disease severity.
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
