Author:
Yoo Han-Wook,Shin Young-Lim,Seo Eul-Ju,Kim Gu-Hwan
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference9 articles.
1. Akagi M, Inui K, Nakajima S, Shima M, Nishigaki T, Muramatsu T, Kokubu C, Tsukamoto H, Sakai N, Okada S (2000) Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. J Hum Genet 45: 60–62
2. Fanconi G, Bickel H (1949) Die chronische Aminoacidurie (Aminosaurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr Acta 4: 359–396
3. Muller D, Santer R, Krawinkel M, Christiansen B, Schaub J (1997) Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. J Inherit Metab Dis 20: 607–608
4. Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K (2000) Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatr Res 48: 586–589
5. Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J (1997) Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nature Genet 17: 324–326
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