RETROSPECTIVE EVALUATION OF THE CLINICAL AND LABORATORY CHARACTERISTICS OF PATIENTS WITH GLYCOGEN STORAGE DISEASE: A SINGLE-CENTER EXPERIENCE
Aim: Glycogen storage diseases (GSDs) are a heterogeneous group of inherited metabolic disorders caused by defects in enzymes or transporters involved in glycogen metabolism. Their clinical manifestations vary widely according to the affected tissue and disease subtype, ranging from hepatic symptoms to muscle-related c...