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

• Glavni autori: Xiufang He (Autor), Xuandi Li (Autor), Yuese Lin (Autor), Hongjun Ba (Autor), Huimin Peng (Autor), Lili Zhang (Autor), Ling Zhu (Autor), Youzhen Qin (Autor), Shujuan Li (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Teme: article
• Online pristup: 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...