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Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome.

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.
AuthorsMahua Roy, K Bose, D K Paul, Puja Anand
JournalCase reports in pathology (Case Rep Pathol) Vol. 2011 Pg. 314696 ( 2011) ISSN: 2090-679X [Electronic] United States
PMID22937383 (Publication Type: Case Reports)

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