Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib
JAMA Netw Open. 2025 Feb 3;8(2):e2461888. doi: 10.1001/jamanetworkopen.2024.61888. ABSTRACT IMPORTANCE: Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder characterized by impaired glucose-6-phosphate …