Premature pubarche in children with Pompe disease.
(Journal Article;Multicenter Study)
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.
Tan, QK-G; Stockton, DW; Pivnick, E; Choudhri, AF; Hines-Dowell, S; Pena, LDM; Deimling, MA; Freemark, MS; Kishnani, PS
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