High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study - Jiao, Kexin; Zhu, Bochen; Chang, Xueli; Guo, Junhong; Fu, Jun; Song, Xueqin; Yu, Xuen; Zhang, Xiaoge; Dong, Jihong; Yan, Wang; Luan, Xinghua; Wang, Zhiqiang; et al. (Journal of inherited metabolic disease, 2025)
Keywords: acid alpha‐glucosidase; Adolescent; Adult; Age; Age of Onset; alpha-Glucosidases - blood; alpha-Glucosidases - genetics; Child; Child, Preschool; China - epidemiology; Creatine; Creatine kinase; Creatine Kinase - blood; Diagnosis; Dried Blood Spot Testing - methods; dried blood spots; Female; Genetic Testing - methods; Glycogen Storage Disease Type II - blood; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - genetics; high‐risk screening; Humans; hyperCKemia; Infant; Kinases; late‐onset Pompe disease; Male; Mass Screening - methods; Mass spectroscopy; Middle Aged; muscle weakness; Muscles; Mutation; Population studies; respiratory distress; Respiratory function; Retrospective Studies; Tandem Mass Spectrometry; Young Adult; China; tandem mass spectrometry; hyperCKemia; late‐onset Pompe disease; acid alpha‐glucosidase; muscle weakness; high‐risk screening; dried blood spots; respiratory distress