Early Detection of Pompe Disease by Newborn Screening is Feasible

This seminal paper from Taiwan was the first large-scale study to show feasibility of newborn screening for the lysosomal storage disorder Pompe disease. These results formed the basis for the now widespread use of acid α-glucosidase (GAA) enzyme activity measurement for Pompe newborn screening.

Authors: Yin-Hsiu Chien, Shu-Chuan Chiang, Xiaokui Kate Zhang, Joan Keutzer, Ni-Chung Lee, Ai-Chu Huang, Chun-An Chen, Mei-Hwan Wu, Pei-Hsin Huang, Fu-Jen Tsai, Yuan-Tsong Chen, Wuh-Liang Hwu

Pediatrics 2008; 122; e39-45.

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