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Journal Abstract Search

226 related items for PubMed ID: 19480329

  • 1. 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; 51(2):166-8. PubMed ID: 19480329
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  • 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; 45(1):60-2. PubMed ID: 10697967
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  • 3. Fanconi-Bickel syndrome.
    Karande S, Kumbhare N, Kulkarni M.
    Indian Pediatr; 2007 Mar; 44(3):223-5. PubMed ID: 17413201
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  • 6. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Mar; 47(2):167-9. PubMed ID: 16052858
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  • 7. 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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  • 10. 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; 296(5):E985-92. PubMed ID: 19223655
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  • 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; 105(3):433-7. PubMed ID: 22214819
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  • 13. Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.
    Sharari S, Abou-Alloul M, Hussain K, Ahmad Khan F.
    Int J Mol Sci; 2020 Aug 31; 21(17):. PubMed ID: 32877990
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  • 16. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
    Santer R, Steinmann B, Schaub J.
    Curr Mol Med; 2002 Mar 31; 2(2):213-27. PubMed ID: 11949937
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  • 17. An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.
    Dayal D, Dekate P, Sharda S, Das A, Attri S.
    J Pediatr Genet; 2013 Jun 31; 2(2):109-12. PubMed ID: 27625848
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  • 18. 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 31; 16(4):604-10. PubMed ID: 22350464
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  • 19. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct 31; 97(10):E1978-86. PubMed ID: 22865906
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  • 20. Genetic testing of two Pakistani patients affected with rare autosomal recessive Fanconi-Bickel syndrome and identification of a novel SLC2A2 splice site variant.
    Batool H, Zubaida B, Hashmi MA, Naeem M.
    J Pediatr Endocrinol Metab; 2019 Nov 26; 32(11):1229-1233. PubMed ID: 31473689
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