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
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
Govindarajan S et al.
Indian Journal of Pediatrics, 2023
Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.
Sharari S et al.
International Journal of Molecular Sciences, 2020
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Pennisi A et al.
Journal of Inherited Metabolic Disease, 2020
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
Khandelwal P et al.
Cen Case Reports, 2018
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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