Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose...

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Enregistré dans:
Détails bibliographiques
Publié dans:Indian J Pediatr
Auteurs principaux: Kehar, Mohit, Bijarnia, Sunita, Ellard, Sian, Houghton, Jayne, Saxena, Renu, Verma, I. C., Wadhwa, Nishant
Format: Artigo
Langue:Inglês
Publié: Springer India 2014
Sujets:
Clinical Brief
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4353876/
https://ncbi.nlm.nih.gov/pubmed/24912437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12098-014-1487-3
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