Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

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