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Journal Abstract Search

124 related items for PubMed ID: 1405483

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 Dec; 195 Pt A():21-5. PubMed ID: 3728154
    [Abstract] [Full Text] [Related]

  • 4. Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.
    Gross M, Gathof BS, Kölle P, Gresser U.
    Electrophoresis; 1995 Oct; 16(10):1927-9. PubMed ID: 8586067
    [Abstract] [Full Text] [Related]

  • 5. 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
    [No Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 23(8-9):1231-3. PubMed ID: 15571235
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  • 9. 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 01; 33 Suppl 3():S159-62. PubMed ID: 20177786
    [Abstract] [Full Text] [Related]

  • 10. Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
    Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J.
    Folia Neuropathol; 2008 Dec 01; 46(1):81-91. PubMed ID: 18368630
    [Abstract] [Full Text] [Related]

  • 11. A new diagnostic technique for adenylosuccinate lyase deficiency.
    Domkin VD, Lazebnik TA, Roudneff AYu, Smirnov MN.
    J Inherit Metab Dis; 1995 Dec 01; 18(3):291-4. PubMed ID: 7474894
    [Abstract] [Full Text] [Related]

  • 12. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
    de Bree PK, Wadman SK, Duran M, Fabery de Jonge H.
    Clin Chim Acta; 1986 May 15; 156(3):279-87. PubMed ID: 3719985
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  • 15. Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl.
    Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G.
    J Inherit Metab Dis; 1993 May 15; 16(2):415-24. PubMed ID: 8412002
    [Abstract] [Full Text] [Related]

  • 16. 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 May 15; 309B():277-80. PubMed ID: 1781383
    [No Abstract] [Full Text] [Related]

  • 17. Adenylosuccinase deficiency.
    Van den Berghe G, Jaeken J.
    Adv Exp Med Biol; 1986 May 15; 195 Pt A():27-33. PubMed ID: 3014834
    [No Abstract] [Full Text] [Related]

  • 18. Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
    van den Bergh FA, Bosschaart AN, Hageman G, Duran M, Tien Poll-The B.
    Neuropediatrics; 1998 Feb 15; 29(1):51-3. PubMed ID: 9553952
    [Abstract] [Full Text] [Related]

  • 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 15; 17(1):133-6. PubMed ID: 18830228
    [Abstract] [Full Text] [Related]

  • 20. D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
    Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S.
    J Inherit Metab Dis; 2008 Dec 15; 31 Suppl 2():S329-32. PubMed ID: 18649008
    [Abstract] [Full Text] [Related]

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