Thrombocytopenia, With or Without Other Manifestations Related to Gaucher Disease: A Key Diagnostic Clue in Gaucher Disease
1. Abstract 1.1. Aim: Gaucher disease (GD) is a rare autosomal recessive genetic disorder caused by a deficiency in the activity of β-glucocerebrosidase, a lysosomal enzyme. Rapid and accurate diagnosis of GD can maximize the effectiveness of treatment effect. However, diagnosing GD is challenging and tends to be delayed because its early clinical manifestations and […]