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Journal Abstract Search

127 related items for PubMed ID: 25919556

  • 21. 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]

  • 22. [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; 160(3):179-184. PubMed ID: 29509141
    [Abstract] [Full Text] [Related]

  • 23. 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; 155A(2):415-7. PubMed ID: 21271664
    [Abstract] [Full Text] [Related]

  • 24. 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 Feb; 13():841788. PubMed ID: 35663312
    [Abstract] [Full Text] [Related]

  • 25. 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; 15(5):745-748. PubMed ID: 21625891
    [Abstract] [Full Text] [Related]

  • 26. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.
    Amita M, Srivastava P, Mandal K, De S, Phadke SR.
    Indian J Pediatr; 2017 Mar; 84(3):236-237. PubMed ID: 27738794
    [No Abstract] [Full Text] [Related]

  • 27. 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; 43(3):540-548. PubMed ID: 31816104
    [Abstract] [Full Text] [Related]

  • 28. Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle.
    Pausch H, Schwarzenbacher H, Burgstaller J, Flisikowski K, Wurmser C, Jansen S, Jung S, Schnieke A, Wittek T, Fries R.
    BMC Genomics; 2015 Apr 18; 16(1):312. PubMed ID: 25927203
    [Abstract] [Full Text] [Related]

  • 29. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Apr 18; 47(2):167-9. PubMed ID: 16052858
    [Abstract] [Full Text] [Related]

  • 30. 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 Apr 18; 59(6):693-695. PubMed ID: 30035403
    [Abstract] [Full Text] [Related]

  • 31. 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 18; 97(10):E1978-86. PubMed ID: 22865906
    [Abstract] [Full Text] [Related]

  • 32. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
    Setoodeh A, Rabbani A.
    Acta Med Iran; 2012 Oct 18; 50(12):836-8. PubMed ID: 23456528
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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]

  • 35.
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  • 36. 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 29; 18(4):397-8. PubMed ID: 12700970
    [Abstract] [Full Text] [Related]

  • 37.
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  • 38. 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]

  • 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 16; 157(10):783-97. PubMed ID: 9809815
    [Abstract] [Full Text] [Related]

  • 40. 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]

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