Associated Papers
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Du T et al.
Orphanet Journal of Rare Diseases, 2024
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.
Hassan SS et al.
Pediatric Diabetes, 2024
Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.
Musa SA et al.
International Journal of Pediatric Endocrinology, 2020
Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.
Sharari S et al.
International Journal of Molecular Sciences, 2020
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.
Sansbury FH et al.
Diabetologia, 2012
Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
Berry GT et al.
Molecular Genetics and Metabolism, 2005
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R et al.
Human Genetics, 2002
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