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

• Asıl Yazarlar: Xiufang He (Yazar), Xuandi Li (Yazar), Yuese Lin (Yazar), Hongjun Ba (Yazar), Huimin Peng (Yazar), Lili Zhang (Yazar), Ling Zhu (Yazar), Youzhen Qin (Yazar), Shujuan Li (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...