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156 related items for PubMed ID: 21625891

  • 1. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene.
    Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S.
    Clin Exp Nephrol; 2011 Oct; 15(5):745-748. PubMed ID: 21625891
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 16(4):604-10. PubMed ID: 22350464
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun 15; 79(6):810-2. PubMed ID: 21972075
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Fanconi-Bickel syndrome.
    Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S.
    Indian J Pediatr; 2012 Jan 26; 79(1):112-4. PubMed ID: 21327337
    [Abstract] [Full Text] [Related]

  • 8. Fanconi-Bickel syndrome - mutation in SLC2A2 gene.
    Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N.
    Indian J Pediatr; 2014 Nov 26; 81(11):1237-9. PubMed ID: 24912437
    [Abstract] [Full Text] [Related]

  • 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 26; 105(3):433-7. PubMed ID: 22214819
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 11. 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 26; 2(2):109-12. PubMed ID: 27625848
    [Abstract] [Full Text] [Related]

  • 12. Fanconi-Bickel syndrome.
    Karande S, Kumbhare N, Kulkarni M.
    Indian Pediatr; 2007 Mar 26; 44(3):223-5. PubMed ID: 17413201
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 48(5):586-9. PubMed ID: 11044475
    [Abstract] [Full Text] [Related]

  • 14. Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
    Mihout F, Devuyst O, Bensman A, Brocheriou I, Ridel C, Wagner CA, Mohebbi N, Boffa JJ, Plaisier E, Ronco P.
    Nephrol Dial Transplant; 2014 Sep 26; 29 Suppl 4():iv113-6. PubMed ID: 25165176
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 16. Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
    Shah R, Rao S, Parikh R, Sophia T, Khalid H.
    Indian Pediatr; 2016 Sep 08; 53(9):829-830. PubMed ID: 27771652
    [Abstract] [Full Text] [Related]

  • 17. 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 08; 17(3):324-6. PubMed ID: 9354798
    [Abstract] [Full Text] [Related]

  • 18. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
    Pennisi A, Maranda B, Benoist JF, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M.
    J Inherit Metab Dis; 2020 May 08; 43(3):540-548. PubMed ID: 31816104
    [Abstract] [Full Text] [Related]

  • 19. 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 May 08; 45(1):60-2. PubMed ID: 10697967
    [Abstract] [Full Text] [Related]

  • 20. [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 08; 17(4):362-6. PubMed ID: 25919556
    [Abstract] [Full Text] [Related]

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