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Premature pubarche in children with Pompe disease.

Publication ,  Journal Article
Tan, QK-G; Stockton, DW; Pivnick, E; Choudhri, AF; Hines-Dowell, S; Pena, LDM; Deimling, MA; Freemark, MS; Kishnani, PS
Published in: J Pediatr
April 2015

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.

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Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

April 2015

Volume

166

Issue

4

Start / End Page

1075 / 8.e1

Location

United States

Related Subject Headings

  • Sexual Development
  • Retrospective Studies
  • Puberty
  • Prognosis
  • Pediatrics
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Follow-Up Studies
 

Citation

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Chicago
ICMJE
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Tan, Q.-G., Stockton, D. W., Pivnick, E., Choudhri, A. F., Hines-Dowell, S., Pena, L. D. M., … Kishnani, P. S. (2015). Premature pubarche in children with Pompe disease. J Pediatr, 166(4), 1075-8.e1. https://doi.org/10.1016/j.jpeds.2014.12.074
Tan, Queenie K-G, David W. Stockton, Eniko Pivnick, Asim F. Choudhri, Stacy Hines-Dowell, Loren D. M. Pena, Melissa A. Deimling, Michael S. Freemark, and Priya S. Kishnani. “Premature pubarche in children with Pompe disease.J Pediatr 166, no. 4 (April 2015): 1075-8.e1. https://doi.org/10.1016/j.jpeds.2014.12.074.
Tan QK-G, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LDM, et al. Premature pubarche in children with Pompe disease. J Pediatr. 2015 Apr;166(4):1075-8.e1.
Tan, Queenie K. G., et al. “Premature pubarche in children with Pompe disease.J Pediatr, vol. 166, no. 4, Apr. 2015, pp. 1075-8.e1. Pubmed, doi:10.1016/j.jpeds.2014.12.074.
Tan QK-G, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LDM, Deimling MA, Freemark MS, Kishnani PS. Premature pubarche in children with Pompe disease. J Pediatr. 2015 Apr;166(4):1075–8.e1.
Journal cover image

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

April 2015

Volume

166

Issue

4

Start / End Page

1075 / 8.e1

Location

United States

Related Subject Headings

  • Sexual Development
  • Retrospective Studies
  • Puberty
  • Prognosis
  • Pediatrics
  • Male
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Follow-Up Studies