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Journal Abstract Search

133 related items for PubMed ID: 24533196

  • 1. Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families.
    Al-Haggar M, Sakamoto O, Shaltout A, El-Hawary A, Wahba Y, Abdel-Hadi D.
    Case Rep Nephrol; 2011; 2011():754369. PubMed ID: 24533196
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  • 2. Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
    Al-Haggar M, Sakamoto O, Shaltout A, Al-Hawari A, Wahba Y, Abdel-Hadi D.
    Clin Exp Nephrol; 2012 Aug; 16(4):604-10. PubMed ID: 22350464
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  • 4. 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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  • 6. Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.
    Sharari S, Abou-Alloul M, Hussain K, Ahmad Khan F.
    Int J Mol Sci; 2020 Aug 31; 21(17):. PubMed ID: 32877990
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  • 7. Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
    Hadipour F, Sarkheil P, Noruzinia M, Hadipour Z, Baghdadi T, Shafeghati Y.
    Indian J Hum Genet; 2013 Jan 31; 19(1):84-6. PubMed ID: 23901198
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  • 9. Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.
    Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N.
    Turk J Pediatr; 2017 Jan 31; 59(4):434-441. PubMed ID: 29624224
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  • 10. 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
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  • 11. 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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  • 14. 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 Feb 16; 51(2):166-8. PubMed ID: 19480329
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  • 15. 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
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  • 16. Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children.
    Musa SA, Ibrahim AA, Hassan SS, Johnson MB, Basheer AT, Arabi AM, Abdullah MA.
    Int J Pediatr Endocrinol; 2020 Nov 23; 2020(1):21. PubMed ID: 33292488
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  • 17. Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.
    Abbasi F, Azizi F, Javaheri M, Mosallanejad A, Ebrahim-Habibi A, Ghafouri-Fard S.
    Gene; 2015 Feb 15; 557(1):103-5. PubMed ID: 25523092
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  • 18. 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 15; 2(2):109-12. PubMed ID: 27625848
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  • 19. 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 15; 81(11):1237-9. PubMed ID: 24912437
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  • 20. 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 15; 29 Suppl 4():iv113-6. PubMed ID: 25165176
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