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149 related items for PubMed ID: 31473689

  • 21. 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; 17(3):324-6. PubMed ID: 9354798
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
    Dweikat IM, Alawneh IS, Bahar SF, Sultan MI.
    BMC Res Notes; 2016 Aug 04; 9():387. PubMed ID: 27487919
    [Abstract] [Full Text] [Related]

  • 24. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
    Setoodeh A, Rabbani A.
    Acta Med Iran; 2012 Aug 04; 50(12):836-8. PubMed ID: 23456528
    [Abstract] [Full Text] [Related]

  • 25. 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 04; 51(2):166-8. PubMed ID: 19480329
    [Abstract] [Full Text] [Related]

  • 26. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
    Du T, Xia Y, Sun C, Gong Z, Liang L, Gong Z, Wang R, Lu D, Zhang K, Yang Y, Sun Y, Sun M, Sun Y, Xiao B, Qiu W.
    Orphanet J Rare Dis; 2024 Feb 16; 19(1):75. PubMed ID: 38365697
    [Abstract] [Full Text] [Related]

  • 27. 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 Feb 16; 59(6):693-695. PubMed ID: 30035403
    [Abstract] [Full Text] [Related]

  • 28. 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 16; 155A(2):415-7. PubMed ID: 21271664
    [Abstract] [Full Text] [Related]

  • 29. 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 16; 2(2):109-12. PubMed ID: 27625848
    [Abstract] [Full Text] [Related]

  • 30. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
    Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
    Hum Genet; 1999 Sep 16; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 31. 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 16; 24(9-10):749-53. PubMed ID: 22145468
    [Abstract] [Full Text] [Related]

  • 32. 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 16; 54():102433. PubMed ID: 34171785
    [Abstract] [Full Text] [Related]

  • 33. 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 Jul 16; 13():841788. PubMed ID: 35663312
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.
    Xiong LJ, Jiang ML, Du LN, Yuan L, Xie XL.
    World J Clin Cases; 2020 Nov 06; 8(21):5467-5473. PubMed ID: 33269285
    [Abstract] [Full Text] [Related]

  • 36. Fanconi-Bickel syndrome.
    Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S.
    Indian J Pediatr; 2012 Jan 06; 79(1):112-4. PubMed ID: 21327337
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
    Khandelwal P, Sinha A, Jain V, Houghton J, Hari P, Bagga A.
    CEN Case Rep; 2018 May 29; 7(1):1-4. PubMed ID: 29116606
    [Abstract] [Full Text] [Related]

  • 39. 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 29; 157(10):783-97. PubMed ID: 9809815
    [Abstract] [Full Text] [Related]

  • 40. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
    Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA.
    Clin Genet; 2007 Jun 29; 71(6):551-7. PubMed ID: 17539904
    [Abstract] [Full Text] [Related]

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