Fanconi Bickel Syndrome with hypercalciuria due to GLUT 2 mutation
暂无分享,去创建一个
[1] B. Shields,et al. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype , 2013, Journal of Medical Genetics.
[2] Amita Sharma,et al. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. , 2012, The Journal of clinical endocrinology and metabolism.
[3] A. Rabbani,et al. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. , 2012, Acta medica Iranica.
[4] O. Sakamoto,et al. Fanconi–Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene , 2011, Clinical and Experimental Nephrology.
[5] S. Nampoothiri,et al. Fanconi–Bickel Syndrome , 2011, The Indian Journal of Pediatrics.
[6] S. Karande,et al. Fanconi-Bickel syndrome. , 2007, Indian pediatrics.
[7] R. Santer,et al. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia , 1997, Journal of Inherited Metabolic Disease.
[8] R. Santer,et al. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. , 2002, Current molecular medicine.
[9] S. Norgren,et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome , 2001, Human Genetics.
[10] R. Santer,et al. Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature , 1998, European Journal of Pediatrics.