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Journal Abstract Search

302 related items for PubMed ID: 18188031

  • 1. Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
    Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A.
    Eur J Gastroenterol Hepatol; 2008 Feb; 20(2):118-21. PubMed ID: 18188031
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  • 2. 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; 25(6):594. PubMed ID: 15880727
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  • 3. Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
    Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F.
    Hum Mutat; 2010 Dec; 31(12):1294-303. PubMed ID: 20848650
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  • 4. 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; 24(6):534. PubMed ID: 15532022
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  • 7. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
    Santamaria R, Esposito G, Vitagliano L, Race V, Paglionico I, Zancan L, Zagari A, Salvatore F.
    Biochem J; 2000 Sep 15; 350 Pt 3(Pt 3):823-8. PubMed ID: 10970798
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  • 8. DNA diagnosis of fatal fructose intolerance from archival tissue.
    Ali M, Rosien U, Cox TM.
    Q J Med; 1993 Jan 15; 86(1):25-30. PubMed ID: 8438046
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  • 14. 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 15; 21(3):226-8. PubMed ID: 17292585
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  • 15. 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
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  • 18. [Study of hereditary fructose intolerance by methods of molecular biology].
    Dreyfus JC, Schapira F, Besmond C, Gregori C, Kahn A.
    Ann Med Interne (Paris); 1985 Mar 18; 136(6):456-8. PubMed ID: 3841265
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  • 20. Screening for hereditary fructose intolerance mutations by reverse dot-blot.
    Lau J, Tolan DR.
    Mol Cell Probes; 1999 Feb 18; 13(1):35-40. PubMed ID: 10024431
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