These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 23714113)

  • 1. 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]  

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

  • 3. 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]  

  • 4. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
    Zikánová M; Krijt J; Hartmannová H; Kmoch S
    J Inherit Metab Dis; 2005; 28(4):493-9. PubMed ID: 15902552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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; 11():. PubMed ID: 35133277
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
    Zikanova M; Krijt J; Skopova V; Krijt M; Baresova V; Kmoch S
    Clin Biochem; 2015 Jan; 48(1-2):2-7. PubMed ID: 25445730
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

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

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 31(4):445-55. PubMed ID: 20127976
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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; 9(10):1501-13. PubMed ID: 10888601
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 16(4):343-8. PubMed ID: 21903433
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.