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  • Title: [Pompe's disease: the role for early diagnosis and treatment].
    Author: Cerini E, Bini M, Donati A, Andaloro L, Compagnoni G.
    Journal: Pediatr Med Chir; 2007; 29(5):270-2. PubMed ID: 18402397.
    Abstract:
    Pompe's disease (PD) is a glycogen storage disease characterized by the deposition of glycogen within body cells. This may lead to severe cardiac hypertrophy, with heart failure. The authors describe a female infant with PD, who developed severe cardiac hypertrophy, and was treated with recombinant human enzyme replacement therapy. This approach led to a progressive reduction of the heart hypertrophy, with improvement of the clinical condition.
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