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Journal Abstract Search

162 related items for PubMed ID: 15243984

  • 1. A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
    Peduto A, Spada M, Alluto A, La Dolcetta M, Ponzone A, Santer R.
    J Inherit Metab Dis; 2004; 27(2):279-80. PubMed ID: 15243984
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  • 2. 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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  • 3. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.
    Saltik-Temizel IN, Coşkun T, Yüce A, Koçak N.
    Turk J Pediatr; 2005 Jun; 47(2):167-9. PubMed ID: 16052858
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  • 6. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
    Odièvre MH, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, Lagardère B, Odièvre M.
    J Inherit Metab Dis; 2002 Sep; 25(5):379-84. PubMed ID: 12408187
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  • 7. 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; 48(5):586-9. PubMed ID: 11044475
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  • 8. Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
    Akagi M, Inui K, Nakajima S, Shima M, Nishigaki T, Muramatsu T, Kokubu C, Tsukamoto H, Sakai N, Okada S.
    J Hum Genet; 2000 Nov; 45(1):60-2. PubMed ID: 10697967
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  • 11. 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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  • 13. Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
    Setoodeh A, Rabbani A.
    Acta Med Iran; 2012 Feb 15; 50(12):836-8. PubMed ID: 23456528
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  • 14. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.
    Amita M, Srivastava P, Mandal K, De S, Phadke SR.
    Indian J Pediatr; 2017 Mar 15; 84(3):236-237. PubMed ID: 27738794
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  • 15. 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
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  • 16. A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome.
    Matsuura T, Tamura T, Chinen Y, Ohta T.
    Clin Genet; 2002 Sep 15; 62(3):255-6. PubMed ID: 12220445
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  • 18. 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
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  • 19. 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 15; 157(10):783-97. PubMed ID: 9809815
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