Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry

Clinical Chemistry

Volumn 52, Issue 6, 2006, Pages 1127-1137

  Hartmann, Susen ^a   Okun, Jürgen G ^a   Schmidt, Christiane ^a   Langhans, Claus Dieter ^a   Garbade, Sven F ^a   Burgard, Peter ^a   Haas, Dorothea ^a   Sass, Jörn Oliver ^b   Nyhan, William L ^c   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; ADENOSINE DEAMINASE; ADENYLOSUCCINATE LYASE; BETA UREIDOPROPIONASE; CREATININE; DIHYDROPYRIMIDINASE; DIHYDROPYRIMIDINE DEHYDROGENASE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MOLYBDENUM COFACTOR; PURINE DERIVATIVE; PURINE NUCLEOSIDE PHOSPHORYLASE; PYRIMIDINE DERIVATIVE; SYNTHETASE; THYMIDINE PHOSPHORYLASE; UNCLASSIFIED DRUG; URIDINE MONOPHOSPHATE SYNTHASE; XANTHINE DEHYDROGENASE;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ADENOSINE DEAMINASE DEFICIENCY; ADENYLOSUCCINATE LYASE DEFICIENCY; ADOLESCENT; ANALYTIC METHOD; ARTICLE; BETA UREIDOPROPIONASE DEFICIENCY; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIHYDROPYRIMIDINASE DEFICIENCY; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISEASE SEVERITY; ELECTROSPRAY MASS SPECTROMETRY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; IONIZATION; ISOTOPE LABELING; LESCH NYHAN SYNDROME; MALE; METABOLITE; MOLYBDENUM FACTOR DEFICIENCY; PRESCHOOL CHILD; PURINE METABOLISM; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; PYRIMIDINE METABOLISM; QUANTITATIVE ANALYSIS; RELIABILITY; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SENSITIVITY AND SPECIFICITY; STANDARD; TANDEM MASS SPECTROMETRY; THYMIDINE PHOSPHORYLASE DEFICIENCY; URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY; URINALYSIS; XANTHINE DEHYDROGENASE DEFICIENCY;

ADOLESCENT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMANS; INFANT; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; PURINES; PYRIMIDINES; REFERENCE VALUES; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 33646932378     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.058842     Document Type: Article

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