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 *

164 related articles for article (PubMed ID: 7474894)

  • 1. A new diagnostic technique for adenylosuccinate lyase deficiency.
    Domkin VD; Lazebnik TA; Roudneff AYu ; Smirnov MN
    J Inherit Metab Dis; 1995; 18(3):291-4. PubMed ID: 7474894
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 5. Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
    Laikind PK; Seegmiller JE; Gruber HE
    Anal Biochem; 1986 Jul; 156(1):81-90. PubMed ID: 3740420
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
    Wadman SK; de Bree PK; Duran M; de Jonge HF
    Adv Exp Med Biol; 1986; 195 Pt A():21-5. PubMed ID: 3728154
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.
    Gross M; Gathof BS; Kölle P; Gresser U
    Electrophoresis; 1995 Oct; 16(10):1927-9. PubMed ID: 8586067
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [A method of diagnosing congenital adenylosuccinase enzymopathy].
    Lazebnik TA; Rudnev AIu; Domkin VD
    Lab Delo; 1991; (9):26-9. PubMed ID: 1721949
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
    de Bree PK; Wadman SK; Duran M; Fabery de Jonge H
    Clin Chim Acta; 1986 May; 156(3):279-87. PubMed ID: 3719985
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
    Krijt J; Sebesta I; Svehlakova A; Zumrova A; Zeman J
    Adv Exp Med Biol; 1994; 370():367-70. PubMed ID: 7660930
    [No Abstract]   [Full Text] [Related]  

  • 11. Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.
    Salerno C; Celli M; Finocchiaro R; D'Eufemia P; Iannetti P; Crifò C; Giardini O
    Adv Exp Med Biol; 1998; 431():177-80. PubMed ID: 9598054
    [No Abstract]   [Full Text] [Related]  

  • 12. Anomalous response to intravenous fructose tolerance test in a case of deficit of adenylosuccinate lyase.
    Salerno C; Crifò C; Capuozzo E; Giardini O
    Adv Exp Med Biol; 1994; 370():371-4. PubMed ID: 7660931
    [No Abstract]   [Full Text] [Related]  

  • 13. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
    Henneke M; Dreha-Kulaczewski S; Brockmann K; van der Graaf M; Willemsen MA; Engelke U; Dechent P; Heerschap A; Helms G; Wevers RA; Gärtner J
    NMR Biomed; 2010 Jun; 23(5):441-5. PubMed ID: 20175147
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Adenylosuccinase activity and succinylpurine production in fibroblasts of adenylosuccinase-deficient children.
    Van den Bergh F; Vincent MF; Jaeken J; Van den Berghe G
    Adv Exp Med Biol; 1991; 309B():277-80. PubMed ID: 1781383
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.
    Zídková L; Krijt J; Sládková J; Hlobilková A; Magner M; Zikánová M; Kmoch S; Friedecký D; Zeman J; Elleder M; Adam T
    Mol Genet Metab; 2010; 101(2-3):286-8. PubMed ID: 20674424
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.