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Journal Abstract Search

165 related items for PubMed ID: 7474894

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  • 4. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
    Race V, Marie S, Vincent MF, Van den Berghe G.
    Hum Mol Genet; 2000 Sep 01; 9(14):2159-65. PubMed ID: 10958654
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  • 5. 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 01; 156(1):81-90. PubMed ID: 3740420
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  • 6. 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 Jul 01; 195 Pt A():21-5. PubMed ID: 3728154
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  • 10. 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 01; 370():367-70. PubMed ID: 7660930
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  • 13. 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 01; 23(5):441-5. PubMed ID: 20175147
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  • 14. 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 01; 48(1-2):2-7. PubMed ID: 25445730
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  • 16. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
    Zikánová M, Krijt J, Hartmannová H, Kmoch S.
    J Inherit Metab Dis; 2005 Jan 01; 28(4):493-9. PubMed ID: 15902552
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  • 17. 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 Jan 01; 309B():277-80. PubMed ID: 1781383
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  • 19. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N.
    Eur J Hum Genet; 2009 Jan 01; 17(1):133-6. PubMed ID: 18830228
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