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Journal Abstract Search

139 related items for PubMed ID: 38454379

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  • 3. 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; 90(2):178-180. PubMed ID: 36324017
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  • 4. 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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  • 6. 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 16; 43(3):540-548. PubMed ID: 31816104
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  • 7. 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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  • 8. 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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  • 10. Fanconi-Bickel syndrome complicated by nephrocalcinosis and GFR decline.
    Baqai K, Bassetti JA, Kovanlikaya A, Seshan SV, Akchurin O.
    Pediatr Nephrol; 2024 Nov 15; 39(11):3201-3204. PubMed ID: 38847860
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  • 12. 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 Nov 15; 59(4):434-441. PubMed ID: 29624224
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  • 13. Hepatocellular Carcinoma in Fanconi-Bickel Syndrome.
    Pogoriler J, O'Neill AF, Voss SD, Shamberger RC, Perez-Atayde AR.
    Pediatr Dev Pathol; 2018 Nov 15; 21(1):84-90. PubMed ID: 28382841
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  • 14. Fanconi-Bickel syndrome.
    Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S.
    Indian J Pediatr; 2012 Jan 15; 79(1):112-4. PubMed ID: 21327337
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  • 15. 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 15; 16(4):604-10. PubMed ID: 22350464
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  • 16. 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 Aug 15; 59(6):693-695. PubMed ID: 30035403
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  • 17. 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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  • 18. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits.
    Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM.
    Hum Mutat; 2019 Jul 15; 40(7):983-995. PubMed ID: 30950137
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  • 19. Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets.
    Afroze B, Chen M.
    J Pediatr Genet; 2016 Sep 15; 5(3):161-6. PubMed ID: 27617158
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  • 20. 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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