%0 Journal Article
%T Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study
%A Fuu-Jen Tsai
%A Ni-Chung Lee
%A Steven Shinn-Forng Peng
%A Wen-Hui Tsai
%A Wuh-Liang Hwu
%A Yin-Hsiu Chien
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0446-7
%X Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the present study, we used longitudinal muscle magnetic resonance imaging (MRI) to determine whether this condition is progressive
%K Glycogen Storage Disease Type II
%K Magnetic Resonance Imaging
%K Neonatal Screening
%K Enzyme Replacement Therapy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869381/