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Journal Abstract Search

152 related items for PubMed ID: 7660930

  • 1. Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
    Krijt J, Sebesta I, Svehlakova A, Zumrova A, Zeman J.
    Adv Exp Med Biol; 1994; 370():367-70. PubMed ID: 7660930
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  • 2. Adenylosuccinate lyase deficiency--first British case.
    Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1231-3. PubMed ID: 15571235
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  • 3. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
    Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J.
    NMR Biomed; 2010 Jun; 23(5):441-5. PubMed ID: 20175147
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  • 4. Anomalous response to intravenous fructose tolerance test in a case of deficit of adenylosuccinate lyase.
    Salerno C, Crifò C, Capuozzo E, Giardini O.
    Adv Exp Med Biol; 1994 Jun; 370():371-4. PubMed ID: 7660931
    [No Abstract] [Full Text] [Related]

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  • 6. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
    Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S159-62. PubMed ID: 20177786
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  • 10. The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
    Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M.
    Clin Biochem; 2013 Dec; 46(18):1899-901. PubMed ID: 24183879
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  • 11. Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
    Ray SP, Duval N, Wilkinson TG, Shaheen SE, Ghosh K, Patterson D.
    Biochim Biophys Acta; 2013 Aug; 1834(8):1545-53. PubMed ID: 23714113
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  • 12. Adenylosuccinase deficiency.
    Van den Berghe G, Jaeken J.
    Adv Exp Med Biol; 1986 Aug; 195 Pt A():27-33. PubMed ID: 3014834
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  • 13. Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s).
    Race V, Marie S, Kienlen-Campard P, Hermans E, Octave JN, Van den Berghe G, Vincent MF.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1227-9. PubMed ID: 15571234
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  • 20. Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
    Salerno C, Celli M, Finocchiaro R, D'Eufemia P, Iannetti P, Crifò C, Giardini O.
    Adv Exp Med Biol; 1998 Oct; 431():177-80. PubMed ID: 9598054
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