The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

• Váldodahkkit: Jing Wang (Dahkki), Yuping Yu (Dahkki), Chunquan Cai (Dahkki), Xiufang Zhi (Dahkki), Ying Zhang (Dahkki), Yu Zhao (Dahkki), Jianbo Shu (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2022-05-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, progressive myopathy, and cardiomyo...