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278 related items for PubMed ID: 9354798

  • 1. 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
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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
    [Abstract] [Full Text] [Related]

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

  • 6. 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 Jan; 51(2):166-8. PubMed ID: 19480329
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 15; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 9. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
    Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B.
    Eur J Pediatr; 1998 Oct 15; 157(10):783-97. PubMed ID: 9809815
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
    Santer R, Hillebrand G, Steinmann B, Schaub J.
    Gastroenterology; 2003 Jan 15; 124(1):34-9. PubMed ID: 12512027
    [Abstract] [Full Text] [Related]

  • 13. No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
    Ozer EA, Aksu N, Uclar E, Erdogan H, Bakiler AR, Tsuda M, Kitasawa E, Coker M, Ozer E.
    Pediatr Nephrol; 2003 Apr 15; 18(4):397-8. PubMed ID: 12700970
    [Abstract] [Full Text] [Related]

  • 14. [SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
    Wang W, Wei M, Song HM, Qiu ZQ, Zhang LJ, Li Z, Tang XY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Apr 15; 17(4):362-6. PubMed ID: 25919556
    [Abstract] [Full Text] [Related]

  • 15. GLUT2 mutations, translocation, and receptor function in diet sugar managing.
    Leturque A, Brot-Laroche E, Le Gall M.
    Am J Physiol Endocrinol Metab; 2009 May 15; 296(5):E985-92. PubMed ID: 19223655
    [Abstract] [Full Text] [Related]

  • 16. Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
    Al-Haggar M, Sakamoto O, Shaltout A, Al-Hawari A, Wahba Y, Abdel-Hadi D.
    Clin Exp Nephrol; 2012 Aug 15; 16(4):604-10. PubMed ID: 22350464
    [Abstract] [Full Text] [Related]

  • 17. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
    Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N.
    Turk J Pediatr; 2017 Aug 15; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

  • 18. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
    Yoo HW, Shin YL, Seo EJ, Kim GH.
    Eur J Pediatr; 2002 Jun 15; 161(6):351-3. PubMed ID: 12029458
    [Abstract] [Full Text] [Related]

  • 19. [The Fanconi-Bickel syndrome].
    Velásquez L, Portillo VH, Sanjinés R, Gamboa JD, Feria-Kaiser C, Valencia P.
    Bol Med Hosp Infant Mex; 1991 Apr 15; 48(4):255-60. PubMed ID: 1867746
    [Abstract] [Full Text] [Related]

  • 20. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
    Odièvre MH, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, Lagardère B, Odièvre M.
    J Inherit Metab Dis; 2002 Sep 15; 25(5):379-84. PubMed ID: 12408187
    [Abstract] [Full Text] [Related]

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