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Journal Abstract Search

137 related items for PubMed ID: 27771652

  • 1. 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]

  • 2. 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 08; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 3. 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 08; 81(11):1237-9. PubMed ID: 24912437
    [Abstract] [Full Text] [Related]

  • 4. Fanconi-Bickel syndrome.
    Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S.
    Indian J Pediatr; 2012 Jan 08; 79(1):112-4. PubMed ID: 21327337
    [Abstract] [Full Text] [Related]

  • 5. 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 Jan 08; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 15(5):745-748. PubMed ID: 21625891
    [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. 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]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
    Govindarajan S, Khandelwal P, Sharma S, Agarwala A, Sinha A, Hari P, Bagga A.
    Indian J Pediatr; 2023 Feb 15; 90(2):178-180. PubMed ID: 36324017
    [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 Feb 15; 51(2):166-8. PubMed ID: 19480329
    [Abstract] [Full Text] [Related]

  • 14. 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 Feb 15; 24(9-10):749-53. PubMed ID: 22145468
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 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 15; 29 Suppl 4():iv113-6. PubMed ID: 25165176
    [Abstract] [Full Text] [Related]

  • 17. 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 Sep 15; 59(6):693-695. PubMed ID: 30035403
    [Abstract] [Full Text] [Related]

  • 18. Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient.
    Pena L, Charrow J.
    Am J Med Genet A; 2011 Feb 15; 155A(2):415-7. PubMed ID: 21271664
    [Abstract] [Full Text] [Related]

  • 19. [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 15; 17(4):362-6. PubMed ID: 25919556
    [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 15; 105(3):433-7. PubMed ID: 22214819
    [Abstract] [Full Text] [Related]

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