@article{825e149ba8df47deab6b7147ebfcb9ea,
title = "Premature pubarche in children with pompe disease",
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.",
author = "Tan, {Queenie K.G.} and Stockton, {David W.} and Eniko Pivnick and Choudhri, {Asim F.} and Stacy Hines-Dowell and Pena, {Loren D.M.} and Deimling, {Melissa A.} and Freemark, {Michael S.} and Kishnani, {Priya S.}",
note = "Funding Information: Supported by a grant from Genzyme Corporation, a Sanofi Company and by the Lysosomal Disease Network. The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network, supported through collaboration between the National Institutes of Health Office of Rare Diseases Research at the National Center for Advancing Translational Science, the National Institute of Neurological Disorders and Stroke, and National Institute of Diabetes and Digestive and Kidney Diseases. Funding Information: Q.T. is supported by a Genzyme -sponsored fellowship. P.K. has received research/grant support and honoraria from Genzyme Corporation , Amicus Therapeutics , Biomarin Pharmaceutical , Inc, Shire , and Advanced Liquid Logic ; and is a member of the Pompe and Gaucher Disease Registry Advisory Board for Genzyme Corporation. D.S. receives or has received research support from Genzyme for clinical trials ( AGLU03606 , AGLU03707 , AGLU09411 , and AGLU07510 ), and serves on the Pompe Registry North American Board of Advisors, which is sponsored by Genzyme and provides honoraria for board meetings. The other authors declare no conflicts of interest. Publisher Copyright: Copyright {\textcopyright} 2015 Elsevier Inc. All rights reserved.",
year = "2015",
doi = "10.1016/j.jpeds.2014.12.074",
language = "English",
volume = "166",
pages = "1075--1078.e1",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Journal of Pediatrics",
number = "4",
}