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Journal Abstract Search

185 related items for PubMed ID: 10090474

  • 1. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G.
    Hum Mutat; 1999; 13(3):197-202. PubMed ID: 10090474
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
    Köhler M, Assmann B, Bräutigam C, Storm W, Marie S, Vincent MF, Van den Berghe G, Simmonds HA, Hoffmann GF.
    Eur J Paediatr Neurol; 1999 Sep 01; 3(1):3-6. PubMed ID: 10727185
    [Abstract] [Full Text] [Related]

  • 4. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation.
    Fon EA, Sarrazin J, Meunier C, Alarcia J, Shevell MI, Philippe A, Leboyer M, Rouleau GA.
    Am J Med Genet; 1995 Dec 18; 60(6):554-7. PubMed ID: 8825895
    [Abstract] [Full Text] [Related]

  • 5. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
    Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S.
    Hum Mutat; 2010 Apr 18; 31(4):445-55. PubMed ID: 20127976
    [Abstract] [Full Text] [Related]

  • 6. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E, Mierzewska H, Kuśmierska K.
    Brain Dev; 2007 Oct 18; 29(9):600-2. PubMed ID: 17485188
    [Abstract] [Full Text] [Related]

  • 7. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
    Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I.
    Hum Mol Genet; 2000 Jun 12; 9(10):1501-13. PubMed ID: 10888601
    [Abstract] [Full Text] [Related]

  • 8. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
    Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G.
    Am J Hum Genet; 2002 Jul 12; 71(1):14-21. PubMed ID: 12016589
    [Abstract] [Full Text] [Related]

  • 9. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
    Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE.
    Nat Genet; 1992 Apr 12; 1(1):59-63. PubMed ID: 1302001
    [Abstract] [Full Text] [Related]

  • 10. 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 12; 16(4):343-8. PubMed ID: 21903433
    [Abstract] [Full Text] [Related]

  • 11. Adenylosuccinate lyase deficiency.
    Spiegel EK, Colman RF, Patterson D.
    Mol Genet Metab; 2006 Jul 12; 89(1-2):19-31. PubMed ID: 16839792
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 17(1):133-6. PubMed ID: 18830228
    [Abstract] [Full Text] [Related]

  • 13. 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 12; 94(4):435-442. PubMed ID: 18524658
    [Abstract] [Full Text] [Related]

  • 14. 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 12; 46(18):1899-901. PubMed ID: 24183879
    [Abstract] [Full Text] [Related]

  • 15. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
    Castro M, Pérez-Cerdá C, Merinero B, García MJ, Bernar J, Gil Nagel A, Torres J, Bermúdez M, Garavito P, Marie S, Vincent F, Van den Berghe G, Ugarte M.
    Neuropediatrics; 2002 Aug 12; 33(4):186-9. PubMed ID: 12368987
    [Abstract] [Full Text] [Related]

  • 16. 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 12; 1834(8):1545-53. PubMed ID: 23714113
    [Abstract] [Full Text] [Related]

  • 17. 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 12; 33 Suppl 3():S159-62. PubMed ID: 20177786
    [Abstract] [Full Text] [Related]

  • 18. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
    Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, van den Bergh F, Vincent MF.
    Eur J Pediatr; 1988 Nov 12; 148(2):126-31. PubMed ID: 3234432
    [Abstract] [Full Text] [Related]

  • 19. [Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].
    Clamadieu C, Cottin X, Rousselle C, Claris O.
    Arch Pediatr; 2008 Feb 12; 15(2):135-8. PubMed ID: 18201882
    [Abstract] [Full Text] [Related]

  • 20. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
    Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R.
    J Pediatr; 2007 Jan 12; 150(1):57-61.e2. PubMed ID: 17188615
    [Abstract] [Full Text] [Related]

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