Associated Papers
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel Syndrome.
Hodrob T et al.
Clinical Genetics, 2025
The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.
Trepiccione F et al.
Science Translational Medicine, 2023
Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
Sharari S et al.
Frontiers in Endocrinology, 2022
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene.
Elsayed AK et al.
Stem Cell Research, 2021
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S et al.
Journal of Medical Genetics, 2021
Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.
Sharari S et al.
International Journal of Molecular Sciences, 2020
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.
Al-Khawaga S et al.
Molecular Genetics & Genomic Medicine, 2019
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
Enogieru OJ et al.
Human Mutation, 2019
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
Dweikat IM et al.
Bmc Research Notes, 2016
Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.
Fridman E et al.
Jimd Reports, 2015
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.
Al-Haggar M
World Journal of Nephrology, 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
Neonatal diabetes mellitus with hypergalactosemia.
Kentrup H et al.
European Journal of Endocrinology, 1999
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
Santer R et al.
European Journal of Pediatrics, 1998
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