Premature pubarche in children with Pompe disease.

Journal Article (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.

Full Text

Duke Authors

Cited Authors

  • Tan, QK-G; Stockton, DW; Pivnick, E; Choudhri, AF; Hines-Dowell, S; Pena, LDM; Deimling, MA; Freemark, MS; Kishnani, PS

Published Date

  • April 2015

Published In

Volume / Issue

  • 166 / 4

Start / End Page

  • 1075 - 8.e1

PubMed ID

  • 25687635

Electronic International Standard Serial Number (EISSN)

  • 1097-6833

Digital Object Identifier (DOI)

  • 10.1016/j.jpeds.2014.12.074


  • eng

Conference Location

  • United States