A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 1; pp. 54 - 61
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.01.2014; Wiley Subscription Services, Inc
• Subjects: 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

The aim of this study was to: (a) analyze the results of a large‐scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile‐onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In thi...