Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies

• Autori principali: Jiamin Zhong (Autore), Yannian Gou (Autore), Piao Zhao (Autore), Xiangyu Dong (Autore), Meichun Guo (Autore), Aohua Li (Autore), Ailing Hao (Autore), Hue H. Luu (Autore), Tong‐Chuan He (Autore), Russell R. Reid (Autore), Jiaming Fan (Autore)
• Natura: Libro
• Pubblicazione: Wiley, 2023-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Glycogen storage disease type I (GSDI) is an inherited metabolic disorder characterized by a deficiency of enzymes or proteins involved in glycogenolysis and gluconeogenesis, resulting in excessive intracellular glycogen accumulation. While GSDI is classified into four different subtypes ba...