A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment - Yang, Chia-Feng; Liu, Hao-Chuan; Hsu, Ting-Rong; Tsai, Fang-Chih; Chiang, Sheng-Fong; Chiang, Chuan-Chi; Ho, Hui-Chen; Lai, Chih-Jou; Yang, Tsui-Feng; Chuang, Sung-Yin; Lin, Ching-Yuang; Niu, Dau-Ming (American journal of medical genetics. Part A, 2014)
Keywords: acid α-glucosidase; Alanine transaminase; Algorithms; alpha-Glucosidases - blood; alpha-Glucosidases - genetics; enzyme replacement therapy; Female; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - epidemiology; Glycogen Storage Disease Type II - therapy; Humans; Infant; Infant, Newborn; infantile-onset Pompe disease; Male; Mass Screening; National Health Programs; Neonatal Screening; newborn screening; Taiwan - epidemiology; Taiwan; acid α-glucosidase; enzyme replacement therapy; newborn screening; infantile-onset Pompe disease