Premature pubarche in children with Pompe disease.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 25687635.
- Also identified by DOI 10.1016/j.jpeds.2014.12.074 and PMC identifier 10880744.
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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.
Medical subject headings
- Enzyme Replacement Therapy
- Glycogen Storage Disease Type II
- Puberty
- Sexual Development