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

Summary To evaluate the significance of inborn metabolic disorders of the pyrimidine degradation pathway, 450 children with unspecific neurological symptoms were comprehensively studied; 200 healthy children were recruited as controls. Uracil and thymine as well as their degradation products in urin...

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Veröffentlicht in:	Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1109-1122
Hauptverfasser:	Schmidt, C., Hofmann, U., Kohlmüller, D., Mürdter, T., Zanger, U. M., Schwab, M., Hoffmann, G. F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent beta-Alanine - analogs & derivatives beta-Alanine - chemistry Biological and medical sciences Child Child, Preschool Chromatography, High Pressure Liquid - methods Dihydropyrimidine Dehydrogenase Deficiency Dihydrouracil Dehydrogenase (NADP) - genetics Epilepsy - diagnosis Exons Female Genotype Humans Infant Infant, Newborn Ions Male Mass Spectrometry Medical genetics Medical sciences Metabolic diseases Miscellaneous Models, Statistical Mutation Normal Distribution Ornithine Carbamoyltransferase Deficiency Disease Pyrimidines - metabolism Radiotherapy. Instrumental treatment. Physiotherapy. Reeducation. Rehabilitation, orthophony, crenotherapy. Diet therapy and various other treatments (general aspects) Reference Standards Reproducibility of Results Sensitivity and Specificity Spectrometry, Mass, Electrospray Ionization - methods Thymine - chemistry Uracil - chemistry
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