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192 related items for PubMed ID: 28382841

  • 1. Hepatocellular Carcinoma in Fanconi-Bickel Syndrome.
    Pogoriler J, O'Neill AF, Voss SD, Shamberger RC, Perez-Atayde AR.
    Pediatr Dev Pathol; 2018; 21(1):84-90. PubMed ID: 28382841
    [Abstract] [Full Text] [Related]

  • 2. 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; 59(6):693-695. PubMed ID: 30035403
    [Abstract] [Full Text] [Related]

  • 3. 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; 2(2):109-12. PubMed ID: 27625848
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 105(3):240-3. PubMed ID: 10987651
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 81(11):1237-9. PubMed ID: 24912437
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 51(2):166-8. PubMed ID: 19480329
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 15(5):745-748. PubMed ID: 21625891
    [Abstract] [Full Text] [Related]

  • 11. [The Fanconi-Bickel syndrome].
    Velásquez L, Portillo VH, Sanjinés R, Gamboa JD, Feria-Kaiser C, Valencia P.
    Bol Med Hosp Infant Mex; 1991 Apr 15; 48(4):255-60. PubMed ID: 1867746
    [Abstract] [Full Text] [Related]

  • 12. [SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
    Wang W, Wei M, Song HM, Qiu ZQ, Zhang LJ, Li Z, Tang XY.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Apr 15; 17(4):362-6. PubMed ID: 25919556
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
    Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J.
    Nat Genet; 1997 Nov 15; 17(3):324-6. PubMed ID: 9354798
    [Abstract] [Full Text] [Related]

  • 15. Dietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia.
    Gjorgjieva M, Calderaro J, Monteillet L, Silva M, Raffin M, Brevet M, Romestaing C, Roussel D, Zucman-Rossi J, Mithieux G, Rajas F.
    J Hepatol; 2018 Nov 15; 69(5):1074-1087. PubMed ID: 30193922
    [Abstract] [Full Text] [Related]

  • 16. Fanconi- Bickel Syndrome: mutation in an Indian patient.
    Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S.
    Indian J Pediatr; 2012 Jun 15; 79(6):810-2. PubMed ID: 21972075
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. [The Fanconi-Bickel syndrome: one more case].
    Ruffa G, Ferrando M, Sbolgi P, Bartolozzi G, Lavia N.
    Minerva Pediatr; 1992 Jun 15; 44(6):313-8. PubMed ID: 1635533
    [Abstract] [Full Text] [Related]

  • 19. Fanconi-Bickel syndrome.
    Karande S, Kumbhare N, Kulkarni M.
    Indian Pediatr; 2007 Mar 15; 44(3):223-5. PubMed ID: 17413201
    [Abstract] [Full Text] [Related]

  • 20. 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 Mar 15; 59(4):434-441. PubMed ID: 29624224
    [Abstract] [Full Text] [Related]

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