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Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation
BACKGROUND: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191–194, 1998). The typical clinical picture is characte...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973067/ https://www.ncbi.nlm.nih.gov/pubmed/27487919 http://dx.doi.org/10.1186/s13104-016-2184-2 |