Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2014_303
Reference21 articles.
1. Aperia A, Bergqvist G, Linne T, Zetterstorm R (1981) Familial Fanconi syndrome with malabsorption and galactose intolerance normal kinase and transferase activity: a report on two siblings. Acta Paediatr Scand 70:527–533
2. Berry GT, Baker L, Kaplan FS, Witzeleben CL (1995) Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome. Pediatr Nephrol 9:287–291
3. Berry GT, Baynes JW, Wells-Knecht KJ, Szwergold BS, Santer R (2005) Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab 86:473–477
4. Clark WF, Kortas C, Suri RS et al (2008) Excessive fluid intake as a novel cause of proteinuria CMAJ 178(2):173–175
5. de Onis M, Blössner M (2003) The World Health Organization global database on child growth and malnutrition: methodology and applications. Int J Epidemiol 32(4):518–526
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