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  • Title: Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome.
    Author: Roy M, Bose K, Paul DK, Anand P.
    Journal: Case Rep Pathol; 2011; 2011():314696. PubMed ID: 22937383.
    Abstract:
    Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
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