Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1109-1122

  Schmidt, Christiane ^a   Hofmann, U ^b   Kohlmuller D ^a   Murdter T ^b   Zanger, U M ^b   Schwab, M ^b   Hoffmann, G F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINO 2 METHYLPROPIONIC ACID; BETA ALANINE; CREATININE; DIHYDROPYRIMIDINE DEHYDROGENASE; DIHYDROURACIL; ORNITHINE CARBAMOYLTRANSFERASE; PROPIONIC ACID; PYRIMIDINE; THYMINE; URACIL; VIGABATRIN;

ARTICLE; ATAXIA; CHILD; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; ENZYME DEGRADATION; EPILEPSY; EXON; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; ISOTOPE LABELING; MAJOR CLINICAL STUDY; METABOLITE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PSYCHOMOTOR RETARDATION; QUANTITATIVE ANALYSIS; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEIZURE; SPEECH DISORDER; SYMPTOM; URINALYSIS;

ADOLESCENT; BETA-ALANINE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIHYDROURACIL DEHYDROGENASE (NADP); EPILEPSY; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; IONS; MALE; MASS SPECTROMETRY; MODELS, STATISTICAL; MUTATION; NORMAL DISTRIBUTION; ORNITHINE CARBAMOYLTRANSFERASE; PYRIMIDINES; REFERENCE STANDARDS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; THYMINE; URACIL;

EID: 31644444321     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0133-7     Document Type: Article

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