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PUBMED FOR HANDHELDS

Journal Abstract Search


136 related items for PubMed ID: 9598054

  • 1. 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; 431():177-80. PubMed ID: 9598054
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  • 4. Adenylosuccinase deficiency.
    Van den Berghe G, Jaeken J.
    Adv Exp Med Biol; 1986; 195 Pt A():27-33. PubMed ID: 3014834
    [No Abstract] [Full Text] [Related]

  • 5. A new diagnostic technique for adenylosuccinate lyase deficiency.
    Domkin VD, Lazebnik TA, Roudneff AYu, Smirnov MN.
    J Inherit Metab Dis; 1995; 18(3):291-4. PubMed ID: 7474894
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  • 6. Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
    Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G.
    Adv Exp Med Biol; 1991; 309B():277-80. PubMed ID: 1781383
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  • 9. Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
    Wadman SK, de Bree PK, Duran M, de Jonge HF.
    Adv Exp Med Biol; 1986; 195 Pt A():21-5. PubMed ID: 3728154
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  • 10. Adenylosuccinase deficiency: a newly recognized variant.
    Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G.
    J Inherit Metab Dis; 1992; 15(3):416-8. PubMed ID: 1405483
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  • 11. Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
    Laikind PK, Seegmiller JE, Gruber HE.
    Anal Biochem; 1986 Jul; 156(1):81-90. PubMed ID: 3740420
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  • 12. 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 Jul; 370():367-70. PubMed ID: 7660930
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  • 13. 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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  • 17. Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study.
    Salerno C, Iotti S, Lodi R, Crifò C, Barbiroli B.
    Adv Exp Med Biol; 1998 Dec; 431():275-8. PubMed ID: 9598074
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  • 18. Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
    Sebesta I, Krijt J, Kmoch S, Hartmannová H, Wojda M, Zeman J.
    J Inherit Metab Dis; 1997 Jul; 20(3):343-4. PubMed ID: 9266351
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  • 19. Novel features in the evolution of adenylosuccinate lyase deficiency.
    Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R.
    Eur J Paediatr Neurol; 2012 Jul; 16(4):343-8. PubMed ID: 21903433
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  • 20. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
    Zikanova M, Krijt J, Skopova V, Krijt M, Baresova V, Kmoch S.
    Clin Biochem; 2015 Jan; 48(1-2):2-7. PubMed ID: 25445730
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