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Journal Abstract Search

257 related items for PubMed ID: 20882353

  • 21. Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
    Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F.
    J Med Genet; 1996 Sep; 33(9):786-8. PubMed ID: 8880583
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  • 24. Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.
    James CL, Rellos P, Ali M, Heeley AF, Cox TM.
    J Med Genet; 1996 Oct; 33(10):837-41. PubMed ID: 8933337
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  • 25. Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.
    Cox TM, O'Donnell MW, Camilleri M, Burghes AH.
    J Clin Invest; 1983 Jul; 72(1):201-13. PubMed ID: 6348085
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  • 27. Hereditary fructose intolerance.
    Ali M, Rellos P, Cox TM.
    J Med Genet; 1998 May; 35(5):353-65. PubMed ID: 9610797
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  • 28. Hereditary Fructose Intolerance Diagnosed in Adulthood.
    Kim MS, Moon JS, Kim MJ, Seong MW, Park SS, Ko JS.
    Gut Liver; 2021 Jan 15; 15(1):142-145. PubMed ID: 33028743
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  • 30. Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
    Dazzo C, Tolan DR.
    Am J Hum Genet; 1990 Jun 15; 46(6):1194-9. PubMed ID: 2339710
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  • 31. 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 15; 24(5):523-6. PubMed ID: 11757579
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  • 33. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.
    Tolan DR.
    Hum Mutat; 1995 Oct 15; 6(3):210-8. PubMed ID: 8535439
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  • 34. Allelic heterogeneity in adult hereditary fructose intolerance. Detection of structural mutations in the aldolase B molecule.
    Cox TM, O'Donnell MW, Camilleri M.
    Mol Biol Med; 1983 Nov 15; 1(4):393-400. PubMed ID: 6680153
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  • 35. Screening for hereditary fructose intolerance mutations by reverse dot-blot.
    Lau J, Tolan DR.
    Mol Cell Probes; 1999 Feb 15; 13(1):35-40. PubMed ID: 10024431
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  • 36. Estimation of hereditary fructose intolerance prevalence in the Chinese population.
    Tang M, Chen X, Ni Q, Lu Y, Wu B, Wang H, Yin Z, Zhou W, Dong X.
    Orphanet J Rare Dis; 2022 Aug 26; 17(1):326. PubMed ID: 36028839
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  • 37. Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans.
    Oppelt SA, Sennott EM, Tolan DR.
    Mol Genet Metab; 2015 Mar 26; 114(3):445-50. PubMed ID: 25637246
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  • 38. Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.
    Santamaria R, Vitagliano L, Tamasi S, Izzo P, Zancan L, Zagari A, Salvatore F.
    Eur J Hum Genet; 1999 Mar 26; 7(4):409-14. PubMed ID: 10352930
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  • 39. 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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  • 40. Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance.
    Rellos P, Ali M, Vidailhet M, Sygusch J, Cox TM.
    Biochem J; 1999 May 15; 340 ( Pt 1)(Pt 1):321-7. PubMed ID: 10229688
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