Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
Journal
The Journal of pediatrics
Date Issued
2022-01-04
Author(s)
Chang, Kai-Ling
In 't Groen, Stijn L M
de Faria, Douglas O S
Huang, Hsiang-Ju
Pijnappel, W W M Pim
Abstract
To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).
Subjects
enzyme replacement therapy; genetic variations; glycogen storage disease type II; hypotonia; manifestation–neuromuscular
SDGs
Type
journal article