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Journal Abstract Search

215 related items for PubMed ID: 11044475

  • 1. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.
    Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K.
    Pediatr Res; 2000 Nov; 48(5):586-9. PubMed ID: 11044475
    [Abstract] [Full Text] [Related]

  • 2. Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
    Akagi M, Inui K, Nakajima S, Shima M, Nishigaki T, Muramatsu T, Kokubu C, Tsukamoto H, Sakai N, Okada S.
    J Hum Genet; 2000 Nov; 45(1):60-2. PubMed ID: 10697967
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  • 3. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
    Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J.
    Nat Genet; 1997 Nov; 17(3):324-6. PubMed ID: 9354798
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  • 4. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
    Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J.
    Hum Genet; 2002 Jan; 110(1):21-9. PubMed ID: 11810292
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  • 5. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
    Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 6. Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.
    Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahim-Habibi A, Ghafouri-Fard S.
    Gene; 2015 Feb 15; 557(1):103-5. PubMed ID: 25523092
    [Abstract] [Full Text] [Related]

  • 7. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Feb 15; 47(2):167-9. PubMed ID: 16052858
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
    Simşek E, Savaş-Erdeve S, Sakamoto O, Doğanci T, Dallar Y.
    Turk J Pediatr; 2009 Feb 15; 51(2):166-8. PubMed ID: 19480329
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  • 9. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
    Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R.
    Mol Genet Metab; 2012 Mar 15; 105(3):433-7. PubMed ID: 22214819
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  • 10. Renal glucosuria due to SGLT2 mutations.
    Kleta R, Stuart C, Gill FA, Gahl WA.
    Mol Genet Metab; 2004 May 15; 82(1):56-8. PubMed ID: 15110322
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  • 11. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
    Santer R, Steinmann B, Schaub J.
    Curr Mol Med; 2002 Mar 15; 2(2):213-27. PubMed ID: 11949937
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  • 20. A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
    Magen D, Sprecher E, Zelikovic I, Skorecki K.
    Kidney Int; 2005 Jan 15; 67(1):34-41. PubMed ID: 15610225
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