Screening and diagnosis of ?-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine
- 13 August 2002
- journal article
- clinical trial
- Published by Wiley in Journal of Mass Spectrometry
- Vol. 37 (9), 954-962
- https://doi.org/10.1002/jms.354
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Detection of β‐ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme levelJournal of Inherited Metabolic Disease, 2001
- β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urineMagnetic Resonance in Medicine, 2001
- Dihydropyrimidinase Deficiency: Structural Organization, Chromosomal Localization, and Mutation Analysis of the Human Dihydropyrimidinase GeneAmerican Journal of Human Genetics, 1998
- Inhibition of β-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemiaJournal of Inherited Metabolic Disease, 1997
- A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysisMass Spectrometry Reviews, 1996
- Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switchingJournal of Chromatography B: Biomedical Sciences and Applications, 1991
- Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase DeficiencyAdvances in experimental medicine and biology, 1989
- Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.JCI Insight, 1988
- Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolismClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- Increased excretion of N-carbamoyl compounds in patients with urea cycle defectsClinica Chimica Acta; International Journal of Clinical Chemistry, 1976