title: [THE DIAGNOSTICS OF HEREDITARY DISORDERS OF METABOLISM OF PURINES AND PYRIMIDINES IN CHILDREN USING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY OF ELECTRO-SPRAY TANDEM MASS-SPECTROMETRY].
abstract: The article presents data concerning new technique of diagnostic of diseases of metabolism of purines and pyrimidines using high performance liquid chromatography combined with electro-spray mass-spectrometry. The procedure of analysis is described in detail: from pre-analytical stage to interpretation of data of liquid chromatography mass-spectrometry, control of quality of data analysis, mass-spectrometry parameters and chromatographic conditions of analysis of purines, pyrimidines and their metabolites. The reference values are presented for purine and pyrimidine nucleosides and bases in urine of healthy individuals. The chemical structure of purines, pyrimidines and their metabolites and examples of chromato-mass-spectrograms under various hereditary disorders of metabolism of purines and pyrimidines are presented as well. The article is targeted to pediatricians of all profiles, medical geneticists and physicians of laboratory diagnostic.
authors.forename: I S
authors.initials: IS
authors.lastname: Mamedov
authors.forename: I V
authors.initials: IV
authors.lastname: Zolkina
authors.forename: V S
authors.initials: VS
authors.lastname: Sukhorukov
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000145:classification / Q000175:diagnosis* / Q000652:urine*; D011687:Purines / Q000652:urine*; D011743:Pyrimidines / Q000652:urine*; D011786:Quality Control; D012015:Reference Standards; D021241:Spectrometry, Mass, Electrospray Ionization; D053719:Tandem Mass Spectrometry
chemical_list: D011687:Purines; D011743:Pyrimidines