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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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| Publicado no: | Indian J Pediatr |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer India
2014
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| Assuntos: | |
| Acesso em linha: | 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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