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Journal Abstract Search

130 related items for PubMed ID: 9598074

  • 21. 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
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  • 24. 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
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  • 28. Phosphorus metabolites in different muscles of the rat leg by 31P image-selected in vivo spectroscopy.
    Madhu B, Lagerwall K, Soussi B.
    NMR Biomed; 1996 Dec; 9(8):327-32. PubMed ID: 9176886
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  • 29. 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
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  • 30. Disorders of purine biosynthesis metabolism.
    Dewulf JP, Marie S, Nassogne MC.
    Mol Genet Metab; 2022 Jul; 136(3):190-198. PubMed ID: 34998670
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  • 31. An HPLC-based assay of adenylosuccinate lyase in erythrocytes.
    Bierau J, Pooters IN, Visser D, Bakker JA.
    Nucleosides Nucleotides Nucleic Acids; 2011 Nov; 30(11):908-17. PubMed ID: 22060555
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  • 33. [In vivo investigations of stress susceptibility in pigs by means of magnetic resonance spectroscopy].
    Kallweit E, Baulain U, Henning M, Kohn G.
    Dtsch Tierarztl Wochenschr; 1997 Sep; 104(9):380-3. PubMed ID: 9410728
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  • 34. 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
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  • 39. 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
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  • 40. 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
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