1.
J Pediatr
; 166(4): 1075-8.e1, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25687635
RESUMO
Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid α-glucosidase. Patients with infantile-onset PD die by early childhood if untreated. Patient survival has improved with enzyme replacement therapy. We report a case series of 8 patients with infantile-onset PD on enzyme replacement therapy with premature pubarche.