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Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spectrum of phenotypical features. There is a paucity of reported data on FBS fr...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7684918/ https://www.ncbi.nlm.nih.gov/pubmed/33292488 http://dx.doi.org/10.1186/s13633-020-00091-5 |