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Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

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...

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Detalles Bibliográficos
Autores principales: Roy, Mahua, Bose, K., Paul, D. K., Anand, Puja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420661/
https://www.ncbi.nlm.nih.gov/pubmed/22937383
http://dx.doi.org/10.1155/2011/314696