Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
Keywords: مطالعه مقطعی; IPA; International Pompe Association; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; LVMI; left ventricular mass index; HHD; hand-held dynamometry; FVC; forced vital capacity; BERA; brainstemâevoked response audiometry; AIMS; Alberta Infa