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148 related items for PubMed ID: 21972075

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

  • 2. 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; 81(11):1237-9. PubMed ID: 24912437
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

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

  • 8. [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 26; 17(4):362-6. PubMed ID: 25919556
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr 26; 45(1):60-2. PubMed ID: 10697967
    [Abstract] [Full Text] [Related]

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

  • 11. 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 31; 29 Suppl 4():iv113-6. PubMed ID: 25165176
    [Abstract] [Full Text] [Related]

  • 12. 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 31; 17(3):324-6. PubMed ID: 9354798
    [Abstract] [Full Text] [Related]

  • 13. 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 Nov 31; 51(2):166-8. PubMed ID: 19480329
    [Abstract] [Full Text] [Related]

  • 14. 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 Nov 31; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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 31; 105(3):433-7. PubMed ID: 22214819
    [Abstract] [Full Text] [Related]

  • 18. 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 31; 48(5):586-9. PubMed ID: 11044475
    [Abstract] [Full Text] [Related]

  • 19. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Nov 31; 47(2):167-9. PubMed ID: 16052858
    [Abstract] [Full Text] [Related]

  • 20. 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 31; 43(3):540-548. PubMed ID: 31816104
    [Abstract] [Full Text] [Related]

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