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Journal Abstract Search

175 related items for PubMed ID: 10697967

  • 1. 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; 45(1):60-2. PubMed ID: 10697967
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  • 2. 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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  • 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
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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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  • 8. 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
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  • 11. [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
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  • 12. 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
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  • 13. 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
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  • 15. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
    Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
    Clin Genet; 2007 Jun 15; 71(6):551-7. PubMed ID: 17539904
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  • 17. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
    Berry GT, Baynes JW, Wells-Knecht KJ, Szwergold BS, Santer R.
    Mol Genet Metab; 2005 Dec 15; 86(4):473-7. PubMed ID: 16288895
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  • 18. 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
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  • 19. 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 May 15; 59(4):434-441. PubMed ID: 29624224
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  • 20. 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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