Premature pubarche in children with pompe disease

Queenie K.G. Tan, David W. Stockton, Eniko Pivnick, Asim F. Choudhri, Stacy Hines-Dowell, Loren D.M. Pena, Melissa A. Deimling, Michael S. Freemark, Priya S. Kishnani

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Pompe disease (PD), or glycogen storage disease type II, results from deficiency of acid a-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.

Original languageEnglish
Pages (from-to)1075-1078.e1
JournalJournal of Pediatrics
Issue number4
StatePublished - 2015


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