| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6221575 | The Journal of Pediatrics | 2015 | 5 Pages |
Abstract
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.
Keywords
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Perinatology, Pediatrics and Child Health
Authors
Queenie K.-G. MD, PhD, David W. MD, Eniko MD, Asim F. MD, Stacy DNP, APNG, Loren D.M. MD, PhD, Melissa A. MD, Michael S. MD, Priya S. MD,