Hypophosphatemic Rickets: Presenting Features of Fanconi-Bickel Syndrome

• Main Authors: Mahua Roy (Author), K. Bose (Author), D. K. Paul (Author), Puja Anand (Author)
• Formato: Livro
• Publicado em: Hindawi Limited, 2011-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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 hypophos...