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Journal Abstract Search

162 related items for PubMed ID: 8933337

  • 21. 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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  • 22. 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; 21(3):226-8. PubMed ID: 17292585
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  • 23. Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.
    Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F.
    FEBS Lett; 2002 Nov 06; 531(2):152-6. PubMed ID: 12417303
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  • 25. 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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  • 26. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
    Cross NC, Tolan DR, Cox TM.
    Cell; 1988 Jun 17; 53(6):881-5. PubMed ID: 3383242
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  • 28. Partial aldolase B gene deletions in hereditary fructose intolerance.
    Cross NC, Cox TM.
    Am J Hum Genet; 1990 Jul 17; 47(1):101-6. PubMed ID: 2349937
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  • 29. 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 17; 24(6):534. PubMed ID: 15532022
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  • 30. Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.
    Davit-Spraul A, Costa C, Zater M, Habes D, Berthelot J, Broué P, Feillet F, Bernard O, Labrune P, Baussan C.
    Mol Genet Metab; 2008 Aug 17; 94(4):443-447. PubMed ID: 18541450
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  • 31. Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
    Kaiser UB, Hegele RA.
    Am J Med Sci; 1991 Dec 17; 302(6):364-8. PubMed ID: 1772121
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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 17; 1(4):393-400. PubMed ID: 6680153
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  • 35. Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene.
    Tolan DR.
    Hum Mutat; 1995 Nov 17; 6(3):210-8. PubMed ID: 8535439
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  • 36. 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 Nov 17; 7(4):409-14. PubMed ID: 10352930
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  • 37. Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
    Chi ZN, Hong J, Yang J, Zhang HJ, Dai M, Cui B, Zhang Y, Gu WQ, Zhang YF, Liu QR, Wang WQ, Li XY, Ning G.
    Endocrine; 2007 Aug 17; 32(1):122-6. PubMed ID: 17955389
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  • 39. Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.
    Coffee EM, Tolan DR.
    J Inherit Metab Dis; 2010 Dec 17; 33(6):715-25. PubMed ID: 20882353
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