Taylan Kav

Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study

Background/Objectives: Gaucher disease (GD) is a rare lysosomal storage disorder with heterogeneous and often nonspecific clinical manifestations. Despite increasing awareness of Gaucher disease (GD), diagnostic delay remains a clinical challenge because of its heterogeneous and...