BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 7660931)

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

  • 42. 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; 23(8-9):1227-9. PubMed ID: 15571234
    [TBL] [Abstract][Full Text] [Related]  

  • 43. [Adenylosuccinase deficiency].
    Fujimori S
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):441-3. PubMed ID: 9590095
    [No Abstract]   [Full Text] [Related]  

  • 44. Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
    Bory C; Chantin C; Boulieu R
    Adv Exp Med Biol; 1994; 370():15-8. PubMed ID: 7660879
    [No Abstract]   [Full Text] [Related]  

  • 45. 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; 16(2):415-24. PubMed ID: 8412002
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Disorders of purine biosynthesis metabolism.
    Dewulf JP; Marie S; Nassogne MC
    Mol Genet Metab; 2022 Jul; 136(3):190-198. PubMed ID: 34998670
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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; 46(1):81-91. PubMed ID: 18368630
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [Inborn errors of purine metabolism].
    Ito T; Sumi S; Ueta A
    Ryoikibetsu Shokogun Shirizu; 2000; (29 Pt 4):410-1. PubMed ID: 11031983
    [No Abstract]   [Full Text] [Related]  

  • 49. Purine biosynthesis in Chinese hamster cell mutants and human fibroblasts partially deficient in adenylosuccinate lyase.
    Laikind PK; Gruber HE; Jansen I; Miller L; Hoffer M; Seegmiller JE; Willis RC; Jaeken J; Van den Berghe G
    Adv Exp Med Biol; 1986; 195 Pt B():363-9. PubMed ID: 2876593
    [No Abstract]   [Full Text] [Related]  

  • 50. Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.
    Jurecka A; Opoka-Winiarska V; Rokicki D; Tylki-Szymańska A
    J Child Neurol; 2012 May; 27(5):645-9. PubMed ID: 22140128
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
    Monostori P; Klinke G; Hauke J; Richter S; Bierau J; Garbade SF; Hoffmann GF; Langhans CD; Haas D; Okun JG
    PLoS One; 2019; 14(2):e0212458. PubMed ID: 30817767
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
    Andelman-Gur MM; Saitsu H; Matsumoto N; Spiegel R; Yosovich K; Lev D; Lerman-Sagie T; Blumkin L
    Eur J Med Genet; 2020 Dec; 63(12):104061. PubMed ID: 32890691
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.
    Curto R; Voit EO; Cascante M
    Biochem J; 1998 Feb; 329 ( Pt 3)(Pt 3):477-87. PubMed ID: 9445373
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Microassay of adenylosuccinase by capillary electrophoresis.
    Salerno C; Crifò C
    Anal Biochem; 1995 Apr; 226(2):377-9. PubMed ID: 7793642
    [No Abstract]   [Full Text] [Related]  

  • 55. 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; 150(1):57-61.e2. PubMed ID: 17188615
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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; 19(9):e1010974. PubMed ID: 37773959
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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; 43(1):65. PubMed ID: 28768552
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy.
    Salerno C; Iotti S; Lodi R; Crifò C; Barbiroli B
    Biochim Biophys Acta; 1997 May; 1360(3):271-6. PubMed ID: 9197470
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Kmoch S; Tylki-Szymańska A
    J Inherit Metab Dis; 2015 Mar; 38(2):231-42. PubMed ID: 25112391
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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; 120A(2):185-90. PubMed ID: 12833398
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.