Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review

• Autori principali: Xiufang He (Autore), Xuandi Li (Autore), Yuese Lin (Autore), Hongjun Ba (Autore), Huimin Peng (Autore), Lili Zhang (Autore), Ling Zhu (Autore), Youzhen Qin (Autore), Shujuan Li (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

BackgroundPompe disease is usually considered in children with elevated creatine kinase (CK) levels and decreased acidic α-glucosidase (GAA) enzyme activity. However, there are exceptions, such as GAA pseudo deficiency alleles, which result in lower GAA enzyme activity but do not cause Pompe disease...