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Journal Abstract Search

294 related items for PubMed ID: 20033295

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  • 4. 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; 31(6):499-503. PubMed ID: 8071980
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  • 5. 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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  • 6. 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
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  • 7. 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; 24(5):523-6. PubMed ID: 11757579
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  • 8. 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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  • 9. 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
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  • 11. 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
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  • 14. Epidemiological aspects of hereditary fructose intolerance: A database study.
    Pinheiro FC, Sperb-Ludwig F, Schwartz IVD.
    Hum Mutat; 2021 Dec; 42(12):1548-1566. PubMed ID: 34524712
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  • 15. 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; 33(6):715-25. PubMed ID: 20882353
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  • 18. 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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  • 19. 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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  • 20. Simple method for detection of mutations causing hereditary fructose intolerance.
    Kullberg-Lindh C, Hannoun C, Lindh M.
    J Inherit Metab Dis; 2002 Nov; 25(7):571-5. PubMed ID: 12638940
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