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Journal Abstract Search

177 related items for PubMed ID: 17375533

  • 1. Aldolase B mutations in Turkish families from central Anatolia.
    Karabulut HG, Halsall D, Sayin BD, Tonyukuk V, Cox TM, Bökesoy I.
    Genet Couns; 2006; 17(4):457-60. PubMed ID: 17375533
    [No Abstract] [Full Text] [Related]

  • 2. [Congenital fructose intolerance. New molecular aspects].
    Larsen K, Adnanes O, Aarskog NK, Runde I, Ogreid D.
    Tidsskr Nor Laegeforen; 1994 Nov 20; 114(28):3312-4. PubMed ID: 7809888
    [Abstract] [Full Text] [Related]

  • 3. Identification of a novel mutation (Leu256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
    Ali M, Sebastio G, Cox TM.
    Hum Mol Genet; 1994 Apr 20; 3(4):684. PubMed ID: 8069328
    [No Abstract] [Full Text] [Related]

  • 4. A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand.
    Ali M, James CL, Cox TM.
    Hum Mutat; 1996 Apr 20; 7(2):155-7. PubMed ID: 8829634
    [No Abstract] [Full Text] [Related]

  • 5. Hereditary fructose intolerance.
    Cox TM.
    Q J Med; 1988 Aug 20; 68(256):585-94. PubMed ID: 3076675
    [No Abstract] [Full Text] [Related]

  • 6. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
    Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R.
    Hum Mutat; 2005 Jun 20; 25(6):594. PubMed ID: 15880727
    [Abstract] [Full Text] [Related]

  • 7. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
    Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F.
    Hum Mutat; 2004 Dec 20; 24(6):534. PubMed ID: 15532022
    [Abstract] [Full Text] [Related]

  • 8. Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance.
    Malay AD, Allen KN, Tolan DR.
    J Mol Biol; 2005 Mar 18; 347(1):135-44. PubMed ID: 15733923
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
    Sánchez-Gutiérrez JC, Benlloch T, Leal MA, Samper B, García-Ripoll I, Felíu JE.
    J Med Genet; 2002 Sep 18; 39(9):e56. PubMed ID: 12205126
    [No Abstract] [Full Text] [Related]

  • 10. Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
    Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM.
    J Med Genet; 1991 Apr 18; 28(4):241-3. PubMed ID: 1856829
    [Abstract] [Full Text] [Related]

  • 11. Simple method for detection of mutations causing hereditary fructose intolerance.
    Kullberg-Lindh C, Hannoun C, Lindh M.
    J Inherit Metab Dis; 2002 Nov 18; 25(7):571-5. PubMed ID: 12638940
    [Abstract] [Full Text] [Related]

  • 12. [Hereditary fructose intolerance].
    Mochizuki H.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():220-3. PubMed ID: 17022535
    [No Abstract] [Full Text] [Related]

  • 13. Semi-automated, reverse-hybridization detection of multiple mutations causing hereditary fructose intolerance.
    Kriegshäuser G, Halsall D, Rauscher B, Oberkanins C.
    Mol Cell Probes; 2007 Jun 28; 21(3):226-8. PubMed ID: 17292585
    [Abstract] [Full Text] [Related]

  • 14. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
    Ali M, Sebastio G, Cox TM.
    Hum Mol Genet; 1994 Jan 28; 3(1):203-4. PubMed ID: 8162030
    [No Abstract] [Full Text] [Related]

  • 15. Screening for hereditary fructose intolerance mutations by reverse dot-blot.
    Lau J, Tolan DR.
    Mol Cell Probes; 1999 Feb 28; 13(1):35-40. PubMed ID: 10024431
    [Abstract] [Full Text] [Related]

  • 16. Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.
    Cross NC, Cox TM.
    Q J Med; 1989 Nov 28; 73(271):1015-20. PubMed ID: 2623136
    [Abstract] [Full Text] [Related]

  • 17. Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
    Gruchota J, Pronicka E, Korniszewski L, Stolarski B, Pollak A, Rogaszewska M, Płoski R.
    Mol Genet Metab; 2006 Apr 28; 87(4):376-8. PubMed ID: 16406649
    [Abstract] [Full Text] [Related]

  • 18. Aldolase B A149P mutation and hereditary fructose intolerance are not associated with sudden infant death syndrome.
    Aarskog NK, Ogreid D.
    Acta Paediatr; 1995 Aug 28; 84(8):947-8. PubMed ID: 7488826
    [No Abstract] [Full Text] [Related]

  • 19. The biochemical basis of hereditary fructose intolerance.
    Bouteldja N, Timson DJ.
    J Inherit Metab Dis; 2010 Apr 28; 33(2):105-12. PubMed ID: 20162364
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis in Turkish patients with hereditary fructose intolerance.
    Dursun A, Kalkanoğlu HS, Coşkun T, Tokatli A, Bittner R, Koçak N, Yüce A, Ozalp I, Boehme HJ.
    J Inherit Metab Dis; 2001 Oct 28; 24(5):523-6. PubMed ID: 11757579
    [Abstract] [Full Text] [Related]

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