BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

180 related articles for article (PubMed ID: 18524658)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
    Vliet LK; Wilkinson TG; Duval N; Vacano G; Graham C; Zikánová M; Skopova V; Baresova V; Hnízda A; Kmoch S; Patterson D
    Mol Genet Metab; 2011 Jan; 102(1):61-8. PubMed ID: 20884265
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

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

  • 7. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
    Zulfiqar M; Lin DD; Van der Graaf M; Barker PB; Fahrner JA; Marie S; Morava E; De Boer L; Willemsen MA; Vining E; Horská A; Engelke U; Wevers RA; Maegawa GH
    J Magn Reson Imaging; 2013 Apr; 37(4):974-80. PubMed ID: 23055421
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 51(33):6701-13. PubMed ID: 22812634
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 47(4):314-20. PubMed ID: 20054783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 17(1):133-6. PubMed ID: 18830228
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 9(14):2159-65. PubMed ID: 10958654
    [TBL] [Abstract][Full Text] [Related]  

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

  • 14. 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; 1834(8):1545-53. PubMed ID: 23714113
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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; 16(1):112. PubMed ID: 33648541
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 55(11):1060-4. PubMed ID: 23937257
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.