Premature pubarche in children with Pompe disease.

J Pediatr 2015 Apr 14;166(4):1075-8.e1. Epub 2015 Feb 14.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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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http://dx.doi.org/10.1016/j.jpeds.2014.12.074DOI Listing
April 2015
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