Associated Papers
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.
Abarca-Barriga HH et al.
Bmc Pediatrics, 2024
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
Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome.
Sharari S et al.
Biomedicines, 2022
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
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets.
Afroze B et al.
Journal of Pediatric Genetics, 2016
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.
Al-Haggar M
World Journal of Nephrology, 2012
Fanconi- Bickel Syndrome: mutation in an Indian patient.
Ekbote AV et al.
Indian Journal of Pediatrics, 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
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
Santer R et al.
Nature Genetics, 1997
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