The emerging phenotype of long-term survivors with infantile Pompe disease.

Purpose: Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors.

Methods: Inclusion criteria included ventilator-free status and age ≤6 months at treatment initiation, and survival to age ≥5 years.

Folate concentrations in pediatric patients with newly diagnosed inflammatory bowel disease.

Background: Folate is postulated to protect against cell injury and long-term risk of cancer. Folate deficiency has been shown to be associated with inflammatory bowel disease (IBD). However, folate concentrations are poorly delineated in children with IBD.