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Journal Abstract Search

239 related items for PubMed ID: 25165176

  • 21. 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]

  • 22. 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 04; 54():102433. PubMed ID: 34171785
    [Abstract] [Full Text] [Related]

  • 23. 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 04; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 24. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome.
    Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, Iinuma K.
    Pediatr Res; 2000 Nov 04; 48(5):586-9. PubMed ID: 11044475
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  • 25. 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 04; 7(1):1-4. PubMed ID: 29116606
    [Abstract] [Full Text] [Related]

  • 26. The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI.
    Trepiccione F, Iervolino A, D'Acierno M, Siccardi S, Costanzo V, Sardella D, De La Motte LR, D'Apolito L, Miele A, Perna AF, Capolongo G, Zacchia M, Frische S, Nielsen R, Staiano L, Sambri I, De Cegli R, Unwin R, Eladari D, Capasso G.
    Sci Transl Med; 2023 Nov 04; 15(720):eabn4214. PubMed ID: 37910600
    [Abstract] [Full Text] [Related]

  • 27. Fanconi syndrome in a patient with a variant of isovaleric acidemia.
    Arnold WC, Brewster M, Byrne WJ, Booth B.
    Int J Pediatr Nephrol; 1986 Nov 04; 7(2):95-8. PubMed ID: 3721731
    [Abstract] [Full Text] [Related]

  • 28. 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 04; 43(3):540-548. PubMed ID: 31816104
    [Abstract] [Full Text] [Related]

  • 29. 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 May 04; 45(1):60-2. PubMed ID: 10697967
    [Abstract] [Full Text] [Related]

  • 30. Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
    Baqai K, Bassetti JA, Kovanlikaya A, Seshan SV, Akchurin O.
    Pediatr Nephrol; 2024 Nov 04; 39(11):3201-3204. PubMed ID: 38847860
    [Abstract] [Full Text] [Related]

  • 31. 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 04; 2(2):109-12. PubMed ID: 27625848
    [Abstract] [Full Text] [Related]

  • 32. 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
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  • 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 Feb 16; 13():841788. PubMed ID: 35663312
    [Abstract] [Full Text] [Related]

  • 34. Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.
    Berry GT, Baker L, Kaplan FS, Witzleben CL.
    Pediatr Nephrol; 1995 Jun 16; 9(3):287-91. PubMed ID: 7632512
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  • 35. 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
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  • 36. 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 Feb 16; 129(3-4):132-7. PubMed ID: 27169150
    [Abstract] [Full Text] [Related]

  • 37. 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]

  • 38. Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
    Berry GT, Baynes JW, Wells-Knecht KJ, Szwergold BS, Santer R.
    Mol Genet Metab; 2005 Dec 08; 86(4):473-7. PubMed ID: 16288895
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  • 39. 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 08; 55(9):2381-5. PubMed ID: 22660720
    [Abstract] [Full Text] [Related]

  • 40. Clinical Approach to Proximal Renal Tubular Acidosis in Children.
    Finer G, Landau D.
    Adv Chronic Kidney Dis; 2018 Jul 08; 25(4):351-357. PubMed ID: 30139461
    [Abstract] [Full Text] [Related]

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