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

• Asıl Yazarlar: Jing Wang (Yazar), Yuping Yu (Yazar), Chunquan Cai (Yazar), Xiufang Zhi (Yazar), Ying Zhang (Yazar), Yu Zhao (Yazar), Jianbo Shu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2022-05-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...