Endocrine Abstracts

Background: Gaucher disease (GD) is the most common lysosomal storage disorder. The defect is deficiency of lysosomal glucocerebrosidase (GBA), due to biallelic mutations in GBA gene, characterized by the deposition of GBA in cells of the macrophage-monocyte system.Objective: To report clinical phenotypes of GD and correlate with GBA gene mutations, and to identify GBA gene mutation in patients diagnosed with GD in Montenegro.Metho...