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227 related items for PubMed ID: 30950137

  • 1. 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; 40(7):983-995. PubMed ID: 30950137
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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
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  • 4. 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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  • 5. 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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  • 6. [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 31; 17(4):362-6. PubMed ID: 25919556
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  • 7. 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]

  • 8. 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]

  • 9. Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome.
    Sharari S, Kabeer B, Mohammed I, Haris B, Pavlovski I, Hawari I, Bhat AA, Toufiq M, Tomei S, Mathew R, Syed N, Nisar S, Maacha S, Grivel JC, Chaussabel D, Ericsson J, Hussain K.
    Biomedicines; 2022 Aug 29; 10(9):. PubMed ID: 36140215
    [Abstract] [Full Text] [Related]

  • 10. Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
    Sharari S, Aouida M, Mohammed I, Haris B, Bhat AA, Hawari I, Nisar S, Pavlovski I, Biswas KH, Syed N, Maacha S, Grivel JC, Saifaldeen M, Ericsson J, Hussain K.
    Front Endocrinol (Lausanne); 2022 Aug 29; 13():841788. PubMed ID: 35663312
    [Abstract] [Full Text] [Related]

  • 11. 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 29; 17(3):324-6. PubMed ID: 9354798
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  • 13. 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 Nov 29; 45(1):60-2. PubMed ID: 10697967
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  • 15. Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.
    Michau A, Guillemain G, Grosfeld A, Vuillaumier-Barrot S, Grand T, Keck M, L'Hoste S, Chateau D, Serradas P, Teulon J, De Lonlay P, Scharfmann R, Brot-Laroche E, Leturque A, Le Gall M.
    J Biol Chem; 2013 Oct 25; 288(43):31080-92. PubMed ID: 23986439
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  • 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 25; 29 Suppl 4():iv113-6. PubMed ID: 25165176
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  • 17. 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 Sep 25; 129(3-4):132-7. PubMed ID: 27169150
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  • 20. No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
    Ozer EA, Aksu N, Uclar E, Erdogan H, Bakiler AR, Tsuda M, Kitasawa E, Coker M, Ozer E.
    Pediatr Nephrol; 2003 Apr 25; 18(4):397-8. PubMed ID: 12700970
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