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Journal Abstract Search

239 related items for PubMed ID: 25165176

  • 1. 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; 29 Suppl 4():iv113-6. PubMed ID: 25165176
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 15; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 4. 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 Oct 15; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 26; 16(4):604-10. PubMed ID: 22350464
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 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. [Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh].
    Joller S, Stettler M, Locher I, Dettwiler M, Seefried F, Meylan M, Drögemüller C.
    Schweiz Arch Tierheilkd; 2018 Mar 26; 160(3):179-184. PubMed ID: 29509141
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 15(5):745-748. PubMed ID: 21625891
    [Abstract] [Full Text] [Related]

  • 11. 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]

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

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

  • 14. 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]

  • 15. Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
    Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B.
    Eur J Pediatr; 1998 Oct 31; 157(10):783-97. PubMed ID: 9809815
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun 31; 79(6):810-2. PubMed ID: 21972075
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis.
    Taştemel-Öztürk T, Bilginer-Gürbüz B, Tekşam Ö, Sivri S.
    Turk J Pediatr; 2017 Nov 10; 59(6):693-695. PubMed ID: 30035403
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 105(3):433-7. PubMed ID: 22214819
    [Abstract] [Full Text] [Related]

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