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Journal Abstract Search


162 related items for PubMed ID: 8933337

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

  • 2. 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; 52(4):835-40. PubMed ID: 8096362
    [Abstract] [Full Text] [Related]

  • 3. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.
    Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR.
    J Inherit Metab Dis; 2010 Feb; 33(1):33-42. PubMed ID: 20033295
    [Abstract] [Full Text] [Related]

  • 4. Molecular analysis of aldolase B genes in hereditary fructose intolerance.
    Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G.
    Lancet; 1990 Feb 10; 335(8685):306-9. PubMed ID: 1967768
    [Abstract] [Full Text] [Related]

  • 5. 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 10; 28(4):241-3. PubMed ID: 1856829
    [Abstract] [Full Text] [Related]

  • 6. Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans.
    Tolan DR, Brooks CC.
    Biochem Med Metab Biol; 1992 Aug 10; 48(1):19-25. PubMed ID: 1524867
    [Abstract] [Full Text] [Related]

  • 7. Hereditary fructose intolerance.
    Ali M, Rellos P, Cox TM.
    J Med Genet; 1998 May 10; 35(5):353-65. PubMed ID: 9610797
    [Abstract] [Full Text] [Related]

  • 8. Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
    Brooks CC, Buist N, Tuerck J, Tolan DR.
    Am J Hum Genet; 1991 Nov 10; 49(5):1075-81. PubMed ID: 1928090
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 24(5):523-6. PubMed ID: 11757579
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 73(271):1015-20. PubMed ID: 2623136
    [Abstract] [Full Text] [Related]

  • 11. Screening for hereditary fructose intolerance mutations by reverse dot-blot.
    Lau J, Tolan DR.
    Mol Cell Probes; 1999 Feb 10; 13(1):35-40. PubMed ID: 10024431
    [Abstract] [Full Text] [Related]

  • 12. Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
    Dazzo C, Tolan DR.
    Am J Hum Genet; 1990 Jun 10; 46(6):1194-9. PubMed ID: 2339710
    [Abstract] [Full Text] [Related]

  • 13. Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
    Ali M, Tunçman G, Cross NC, Vidailhet M, Bökesoy I, Gitzelmann R, Cox TM.
    J Med Genet; 1994 Jun 10; 31(6):499-503. PubMed ID: 8071980
    [Abstract] [Full Text] [Related]

  • 14. Simple method for detection of mutations causing hereditary fructose intolerance.
    Kullberg-Lindh C, Hannoun C, Lindh M.
    J Inherit Metab Dis; 2002 Nov 10; 25(7):571-5. PubMed ID: 12638940
    [Abstract] [Full Text] [Related]

  • 15. 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 10; 25(6):594. PubMed ID: 15880727
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
    Brooks CC, Tolan DR.
    FASEB J; 1994 Jan 18; 8(1):107-13. PubMed ID: 8299883
    [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 18; 84(8):947-8. PubMed ID: 7488826
    [No Abstract] [Full Text] [Related]

  • 19. The molecular basis of hereditary fructose intolerance in Italian children.
    Santamaria R, Scarano MI, Esposito G, Chiandetti L, Izzo P, Salvatore F.
    Eur J Clin Chem Clin Biochem; 1993 Oct 18; 31(10):675-8. PubMed ID: 8292669
    [Abstract] [Full Text] [Related]

  • 20. [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]


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