@article{ATM26063,
author = {Yin-Hsiu Chien and Wuh-Liang Hwu and Ni-Chung Lee},
title = {Newborn screening: Taiwanese experience},
journal = {Annals of Translational Medicine},
volume = {7},
number = {13},
year = {2019},
keywords = {},
abstract = {Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified patients and discuss the limitations of the current therapy. We also address the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations. Further modifications of the current treatment and better predictive biomarkers should be explored.},
issn = {2305-5847}, url = {https://atm.amegroups.org/article/view/26063}
}