Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
41141495 (PubMed )
Supplement: mmc1.pdf
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome.
Hodrob T et al.
Clinical Genetics, 2025
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
Govindarajan S et al.
Indian Journal of Pediatrics, 2023
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
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
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.
Michau A et al.
The Journal of Biological Chemistry, 2013
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
Al-Haggar M et al.
Clinical and Experimental Nephrology, 2012
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.
Al-Haggar M
World Journal of Nephrology, 2012
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Grünert SC et al.
Molecular Genetics and Metabolism, 2012
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R et al.
Human Genetics, 2002
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Burwinkel B et al.
Human Genetics, 1999
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