Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report
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DOI: 10.1186/s13256-020-02488-5
Abstract: Background Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities. None of the cases have been reported in Black Africans… read more here.
Keywords: syndrome ugandan; diagnostic challenges; case; report ... See more keywords
Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
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DOI: 10.1186/s13633-020-00091-5
Abstract: 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… read more here.
Keywords: clinical phenotypes; genetics; bickel syndrome; fanconi bickel ... See more keywords
Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature
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DOI: 10.12998/wjcc.v8.i21.5467
Abstract: BACKGROUND Fanconi–Bickel syndrome (FBS) is a rare autosomal recessive disorder caused by mutation of the SLC2A2 gene, which encodes glucose transporter protein 2 (GLUT2). CASE SUMMARY We report a 7-mo-old girl with cytomegalovirus infection presenting… read more here.
Keywords: case; report; bickel syndrome; fanconi bickel ... See more keywords
Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome
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DOI: 10.3390/biomedicines10092114
Abstract: Fanconi–Bickel Syndrome (FBS) is a rare disorder of carbohydrate metabolism that is characterized by the accumulation of glycogen mainly in the liver. It is inherited in an autosomal recessive manner due to mutations in the… read more here.
Keywords: glut2; bickel syndrome; expression; dysglycemia ... See more keywords