Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening
YH Chien, NC Lee, HJ Huang, BL Thurberg… - The Journal of …, 2011 - Elsevier
OBJECTIVE: To determine whether newborn screening facilitates early detection and
thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have
conducted a newborn screening program since 2005. Newborns with deficient skin
fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no
cardiomyopathy were defined as having later-onset Pompe disease, and their motor
development and serum creatine kinase levels were monitored every 3 to 6 months …
thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have
conducted a newborn screening program since 2005. Newborns with deficient skin
fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no
cardiomyopathy were defined as having later-onset Pompe disease, and their motor
development and serum creatine kinase levels were monitored every 3 to 6 months …
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
CYH Chien YinHsiu, LNC Lee NiChung… - 2011 - cabidigitallibrary.org
Objective: To determine whether newborn screening facilitates early detection and thereby
early treatment initiation for later-onset Pompe disease. Study design: We have conducted a
newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-
glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy
were defined as having later-onset Pompe disease, and their motor development and serum
creatine kinase levels were monitored every 3 to 6 months. Results: Among 344 056 …
early treatment initiation for later-onset Pompe disease. Study design: We have conducted a
newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-
glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy
were defined as having later-onset Pompe disease, and their motor development and serum
creatine kinase levels were monitored every 3 to 6 months. Results: Among 344 056 …
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