Associated Papers
Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Akcan MB et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.
Ragate DC et al.
Journal of Bone and Mineral Metabolism, 2024
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P et al.
Indian Journal of Pediatrics, 2023
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
Grünert SC et al.
Genes, 2021
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.
Michau A et al.
The Journal of Biological Chemistry, 2013
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.
Al-Haggar M
World Journal of Nephrology, 2012
Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.
Bovi T et al.
Parkinsonism & Related Disorders, 2011
Inherited epithelial transporter disorders--an overview.
Bergeron MJ et al.
Journal of Inherited Metabolic Disease, 2008
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R et al.
Human Genetics, 2002
Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.
Klepper J et al.
Febs Letters, 2001
Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus.
Møller AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.
Shimada F et al.
Diabetologia, 1995
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