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Journal Abstract Search

131 related items for PubMed ID: 22145468

  • 21. 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
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  • 24. 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
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  • 25. [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 06; 160(3):179-184. PubMed ID: 29509141
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  • 26. 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 06; 54():102433. PubMed ID: 34171785
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  • 27. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun 06; 79(6):810-2. PubMed ID: 21972075
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  • 28. 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 Jun 06; 129(3-4):132-7. PubMed ID: 27169150
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  • 29. 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 06; 48(5):586-9. PubMed ID: 11044475
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  • 30. 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
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  • 31. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.
    Amita M, Srivastava P, Mandal K, De S, Phadke SR.
    Indian J Pediatr; 2017 Mar 04; 84(3):236-237. PubMed ID: 27738794
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  • 32. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Mar 04; 47(2):167-9. PubMed ID: 16052858
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  • 33. 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 04; 15(5):745-748. PubMed ID: 21625891
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  • 34. 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 04; 157(10):783-97. PubMed ID: 9809815
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  • 35. Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia.
    Chen H, Lyu JJ, Huang Z, Sun XM, Liu Y, Yuan CJ, Ye L, Yu D, Wu J.
    Front Pediatr; 2022 Oct 04; 10():897636. PubMed ID: 35757134
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  • 37. 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
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