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An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2013
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020967/ https://ncbi.nlm.nih.gov/pubmed/27625848 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13056 |
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