How to cite item

Newborn screening: Taiwanese experience

	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 = {}