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Journal Abstract Search

201 related items for PubMed ID: 16052858

  • 21.
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  • 22. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
    Santer R, Steinmann B, Schaub J.
    Curr Mol Med; 2002 Mar; 2(2):213-27. PubMed ID: 11949937
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  • 23. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.
    Yoo HW, Shin YL, Seo EJ, Kim GH.
    Eur J Pediatr; 2002 Jun; 161(6):351-3. PubMed ID: 12029458
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  • 24. 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
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  • 26. 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 26; 90(2):178-180. PubMed ID: 36324017
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  • 27. 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 26; 157(10):783-97. PubMed ID: 9809815
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  • 28. 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 26; 86(4):473-7. PubMed ID: 16288895
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  • 29. [The Fanconi-Bickel syndrome].
    Velásquez L, Portillo VH, Sanjinés R, Gamboa JD, Feria-Kaiser C, Valencia P.
    Bol Med Hosp Infant Mex; 1991 Apr 26; 48(4):255-60. PubMed ID: 1867746
    [Abstract] [Full Text] [Related]

  • 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 - mutation in SLC2A2 gene.
    Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N.
    Indian J Pediatr; 2014 Nov 04; 81(11):1237-9. PubMed ID: 24912437
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  • 36. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
    Grünert SC, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R.
    Genes (Basel); 2021 Nov 10; 12(11):. PubMed ID: 34828390
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  • 38. 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 Nov 10; 24(9-10):749-53. PubMed ID: 22145468
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  • 39. 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 Nov 10; 59(6):693-695. PubMed ID: 30035403
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  • 40. 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 10; 43(3):540-548. PubMed ID: 31816104
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