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Journal Abstract Search

167 related items for PubMed ID: 8880583

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 28(4):241-3. PubMed ID: 1856829
    [Abstract] [Full Text] [Related]

  • 3. A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
    Brooks CC, Tolan DR.
    FASEB J; 1994 Jan; 8(1):107-13. PubMed ID: 8299883
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Simple method for detection of mutations causing hereditary fructose intolerance.
    Kullberg-Lindh C, Hannoun C, Lindh M.
    J Inherit Metab Dis; 2002 Nov 17; 25(7):571-5. PubMed ID: 12638940
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 39(9):e56. PubMed ID: 12205126
    [No Abstract] [Full Text] [Related]

  • 8. Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
    Brooks CC, Tolan DR.
    Am J Hum Genet; 1993 Apr 17; 52(4):835-40. PubMed ID: 8096362
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 31(12):1294-303. PubMed ID: 20848650
    [Abstract] [Full Text] [Related]

  • 11. Partial aldolase B gene deletions in hereditary fructose intolerance.
    Cross NC, Cox TM.
    Am J Hum Genet; 1990 Jul 15; 47(1):101-6. PubMed ID: 2349937
    [Abstract] [Full Text] [Related]

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  • 13. 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 15; 32(1):122-6. PubMed ID: 17955389
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  • 15. Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
    Kaiser UB, Hegele RA.
    Am J Med Sci; 1991 Dec 15; 302(6):364-8. PubMed ID: 1772121
    [Abstract] [Full Text] [Related]

  • 16. 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 Dec 15; 7(4):409-14. PubMed ID: 10352930
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.
    Ali M, Cox TM.
    Am J Hum Genet; 1995 Apr 15; 56(4):1002-5. PubMed ID: 7717389
    [No Abstract] [Full Text] [Related]

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  • 20. 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 15; 3(1):203-4. PubMed ID: 8162030
    [No Abstract] [Full Text] [Related]

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