Premature pubarche in children with pompe disease

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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 (US)
Pages (from-to)1075-1078.e1
JournalJournal of Pediatrics
Volume166
Issue number4
DOIs
StatePublished - Jan 1 2015

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Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Glucosidases
Acids
Survival

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Tan, Q. K. G., Stockton, D. W., Pivnick, E., Choudhri, A., Hines-Dowell, S., Pena, L. D. M., ... Kishnani, P. S. (2015). Premature pubarche in children with pompe disease. Journal of Pediatrics, 166(4), 1075-1078.e1. https://doi.org/10.1016/j.jpeds.2014.12.074

Premature pubarche in children with pompe disease. / Tan, Queenie K.G.; Stockton, David W.; Pivnick, Eniko; Choudhri, Asim; Hines-Dowell, Stacy; Pena, Loren D.M.; Deimling, Melissa A.; Freemark, Michael S.; Kishnani, Priya S.

In: Journal of Pediatrics, Vol. 166, No. 4, 01.01.2015, p. 1075-1078.e1.

Research output: Contribution to journalArticle

Tan, QKG, Stockton, DW, Pivnick, E, Choudhri, A, Hines-Dowell, S, Pena, LDM, Deimling, MA, Freemark, MS & Kishnani, PS 2015, 'Premature pubarche in children with pompe disease', Journal of Pediatrics, vol. 166, no. 4, pp. 1075-1078.e1. https://doi.org/10.1016/j.jpeds.2014.12.074
Tan QKG, Stockton DW, Pivnick E, Choudhri A, Hines-Dowell S, Pena LDM et al. Premature pubarche in children with pompe disease. Journal of Pediatrics. 2015 Jan 1;166(4):1075-1078.e1. https://doi.org/10.1016/j.jpeds.2014.12.074
Tan, Queenie K.G. ; Stockton, David W. ; Pivnick, Eniko ; Choudhri, Asim ; Hines-Dowell, Stacy ; Pena, Loren D.M. ; Deimling, Melissa A. ; Freemark, Michael S. ; Kishnani, Priya S. / Premature pubarche in children with pompe disease. In: Journal of Pediatrics. 2015 ; Vol. 166, No. 4. pp. 1075-1078.e1.
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