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127 related items for PubMed ID: 25919556

  • 1. [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; 17(4):362-6. PubMed ID: 25919556
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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. 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 Feb 15; 45(1):60-2. PubMed ID: 10697967
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 110(1):21-9. PubMed ID: 11810292
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 31; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
    Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM.
    Hum Mutat; 2019 Jul 31; 40(7):983-995. PubMed ID: 30950137
    [Abstract] [Full Text] [Related]

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

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 31; 81(11):1237-9. PubMed ID: 24912437
    [Abstract] [Full Text] [Related]

  • 15. Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).
    Burgstaller J, Url A, Pausch H, Schwarzenbacher H, Egerbacher M, Wittek T.
    Berl Munch Tierarztl Wochenschr; 2016 Nov 31; 129(3-4):132-7. PubMed ID: 27169150
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.
    Sansbury FH, Flanagan SE, Houghton JA, Shuixian Shen FL, Al-Senani AM, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT.
    Diabetologia; 2012 Sep 31; 55(9):2381-5. PubMed ID: 22660720
    [Abstract] [Full Text] [Related]

  • 18. Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
    Su Z, Du ML, Chen HS, Chen QL, Yu CS, Mal HM.
    J Pediatr Endocrinol Metab; 2011 Sep 31; 24(9-10):749-53. PubMed ID: 22145468
    [Abstract] [Full Text] [Related]

  • 19. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene.
    Elsayed AK, Al-Khawaga S, Hussain K, Abdelalim EM.
    Stem Cell Res; 2021 Jul 31; 54():102433. PubMed ID: 34171785
    [Abstract] [Full Text] [Related]

  • 20. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
    Grünert SC, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R.
    Genes (Basel); 2021 Nov 10; 12(11):. PubMed ID: 34828390
    [Abstract] [Full Text] [Related]

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