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Journal Abstract Search

167 related items for PubMed ID: 18649008

  • 1. 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; 31 Suppl 2():S329-32. PubMed ID: 18649008
    [Abstract] [Full Text] [Related]

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

  • 3. 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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  • 4. 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 Jul; 431():177-80. PubMed ID: 9598054
    [No Abstract] [Full Text] [Related]

  • 5. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
    Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E.
    Mol Genet Metab; 2008 Aug; 94(4):435-442. PubMed ID: 18524658
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  • 7. 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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  • 9. 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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  • 10. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
    Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D, Pegan SD.
    Biochemistry; 2012 Aug 21; 51(33):6701-13. PubMed ID: 22812634
    [Abstract] [Full Text] [Related]

  • 11. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
    Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A.
    Ital J Pediatr; 2017 Aug 02; 43(1):65. PubMed ID: 28768552
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 156(1):81-90. PubMed ID: 3740420
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  • 13. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E, Mierzewska H, Kuśmierska K.
    Brain Dev; 2007 Oct 02; 29(9):600-2. PubMed ID: 17485188
    [Abstract] [Full Text] [Related]

  • 14. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
    Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A.
    Orphanet J Rare Dis; 2021 Mar 01; 16(1):112. PubMed ID: 33648541
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  • 16. Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
    van Werkhoven MA, Duley JA, McGown I, Munce T, Freeman JL, Pitt JJ.
    Dev Med Child Neurol; 2013 Nov 01; 55(11):1060-4. PubMed ID: 23937257
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  • 17. 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 01; 29(1):51-3. PubMed ID: 9553952
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  • 19. Adenylosuccinate lyase deficiency.
    Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A.
    J Inherit Metab Dis; 2015 Mar 01; 38(2):231-42. PubMed ID: 25112391
    [Abstract] [Full Text] [Related]

  • 20. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
    Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):185-90. PubMed ID: 12833398
    [Abstract] [Full Text] [Related]

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