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162 related items for PubMed ID: 12016589

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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]

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

  • 24. A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.
    Fenton AR, Janowitz HN, Franklin LP, Young RG, Moro CA, DeGennaro MV, McReynolds MR, Wang W, Hanna-Rose W.
    Mol Genet Metab; 2023 Nov 15; 140(3):107686. PubMed ID: 37607437
    [Abstract] [Full Text] [Related]

  • 25. Pathway-specific effects of ADSL deficiency on neurodevelopment.
    Dutto I, Gerhards J, Herrera A, Souckova O, Škopová V, Smak JA, Junza A, Yanes O, Boeckx C, Burkhalter MD, Zikánová M, Pons S, Philipp M, Lüders J, Stracker TH.
    Elife; 2022 Feb 08; 11():. PubMed ID: 35133277
    [Abstract] [Full Text] [Related]

  • 26. Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report.
    Wang XC, Wang T, Liu RH, Jiang Y, Chen DD, Wang XY, Kong QX.
    World J Clin Cases; 2022 Oct 26; 10(30):11082-11089. PubMed ID: 36338215
    [Abstract] [Full Text] [Related]

  • 27. 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 26; 16(4):343-8. PubMed ID: 21903433
    [Abstract] [Full Text] [Related]

  • 28. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G, Vincent MF, Jaeken J.
    J Inherit Metab Dis; 1997 Jun 26; 20(2):193-202. PubMed ID: 9211192
    [Abstract] [Full Text] [Related]

  • 29. Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role.
    Palenchar JB, Colman RF.
    Biochemistry; 2003 Feb 25; 42(7):1831-41. PubMed ID: 12590570
    [Abstract] [Full Text] [Related]

  • 30. The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway.
    Toth EA, Yeates TO.
    Structure; 2000 Feb 15; 8(2):163-74. PubMed ID: 10673438
    [Abstract] [Full Text] [Related]

  • 31. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
    Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.
    Hum Mol Genet; 2012 Apr 01; 21(7):1534-43. PubMed ID: 22180458
    [Abstract] [Full Text] [Related]

  • 32. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.
    Fon EA, Demczuk S, Delattre O, Thomas G, Rouleau GA.
    Cytogenet Cell Genet; 1993 Apr 01; 64(3-4):201-3. PubMed ID: 8404037
    [Abstract] [Full Text] [Related]

  • 33. MicroRNA-21 guide and passenger strand regulation of adenylosuccinate lyase-mediated purine metabolism promotes transition to an EGFR-TKI-tolerant persister state.
    Zhang WC, Skiados N, Aftab F, Moreno C, Silva L, Corbilla PJA, Asara JM, Hata AN, Slack FJ.
    Cancer Gene Ther; 2022 Dec 01; 29(12):1878-1894. PubMed ID: 35840668
    [Abstract] [Full Text] [Related]

  • 34. Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans.
    Moro CA, Sony SA, Franklin LP, Dong S, Peifer MM, Wittig KE, Hanna-Rose W.
    PLoS Genet; 2023 Sep 01; 19(9):e1010974. PubMed ID: 37773959
    [Abstract] [Full Text] [Related]

  • 35. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
    Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T.
    Folia Neuropathol; 2009 Sep 01; 47(4):314-20. PubMed ID: 20054783
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 31 Suppl 2():S329-32. PubMed ID: 18649008
    [Abstract] [Full Text] [Related]

  • 37. Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
    Macchiaiolo M, Buonuomo PS, Mastrogiorgio G, Bordi M, Testa B, Weber G, Bellacchio E, Tartaglia M, Cecconi F, Bartuli A.
    Mol Genet Metab Rep; 2020 Jun 01; 23():100592. PubMed ID: 32405461
    [Abstract] [Full Text] [Related]

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  • 40. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E, Mierzewska H, Kuśmierska K.
    Brain Dev; 2007 Oct 01; 29(9):600-2. PubMed ID: 17485188
    [Abstract] [Full Text] [Related]

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