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Journal Abstract Search

180 related items for PubMed ID: 12408187

  • 1. 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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  • 2. 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; 17(3):324-6. PubMed ID: 9354798
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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 Nov; 47(2):167-9. PubMed ID: 16052858
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  • 4. 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 Nov; 27(2):279-80. PubMed ID: 15243984
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  • 5. Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
    Wendel U, Ruitenbeek W, Bentlage HA, Sengers RC, Trijbels JM.
    Eur J Pediatr; 1995 Nov; 154(11):915-8. PubMed ID: 8582406
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  • 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; 105(3):240-3. PubMed ID: 10987651
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  • 9. 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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  • 11. 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 15; 48(5):586-9. PubMed ID: 11044475
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  • 16. 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
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  • 17. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
    Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM.
    Eur J Pediatr; 2016 Apr 15; 175(4):517-25. PubMed ID: 26563427
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