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Journal Abstract Search

117 related items for PubMed ID: 9165520

  • 41. Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.
    Lim S, Lowry M, Strongin RM.
    Aust J Chem; 2011 Oct 14; 64(11):1470-1473. PubMed ID: 22719107
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  • 42. Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
    Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymańska A.
    Neuropediatrics; 2014 Feb 14; 45(1):50-5. PubMed ID: 23504561
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  • 44. 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
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  • 48. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
    Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M.
    Hum Mol Genet; 2019 Nov 15; 28(22):3805-3814. PubMed ID: 31600779
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  • 49. Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s).
    Race V, Marie S, Kienlen-Campard P, Hermans E, Octave JN, Van den Berghe G, Vincent MF.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 15; 23(8-9):1227-9. PubMed ID: 15571234
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  • 54. Studies of mutant human adenylosuccinate lyase.
    Barshop BA, Alberts AS, Laikind PK, Gruber HE.
    Adv Exp Med Biol; 1989 Oct 15; 253A():23-30. PubMed ID: 2624196
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  • 55. 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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  • 56. 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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  • 57. 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 Feb 01; 15(3):416-8. PubMed ID: 1405483
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  • 58. 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 01; 1(1):59-63. PubMed ID: 1302001
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  • 59. 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 01; 150(1):57-61.e2. PubMed ID: 17188615
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  • 60. 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
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