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    Clin Chem. 1996 Feb;42(2):326-8.

    Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency.

    Source

    Laboratoire d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.

    Abstract

    Using HPLC methods, we measured the concentrations of nucleosides and nucleotides for a patient with no purine nucleoside phosphorylase (PNP; EC 2.4.2.1) enzymatic activity. Concentrations of inosine and guanosine were abnormally high in urine and plasma, whereas guanosine diphosphate (GDP) and guanosine triphosphate (GTP) concentrations in erythrocytes were depleted. The unusual presence of deoxyribonucleosides (deoxyinosine and deoxyguanosine) and deoxyribonucleotides (dGDP and dGTP) was also notable. Thus, HPLC represents an accurate and useful tool for the study of purine metabolic disorders.

    PMID:
    8595732
    [PubMed - indexed for MEDLINE]
    Free full text

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