Background: A rapid and specific screening method for patients at risk of inherited disorders of purine and pyrimidine metabolism is desirable because symptoms are varied and nonspecific. The aim of this study was to develop a rapid and specific method for screening with use of liquid urine samples or urine-soaked filter paper strips. Methods: Reverse-phase HPLC was combined with electrospray ionization (ESI), tandem mass spectrometry (MS/MS), and detection performed by multiple reaction monitoring. Transitions and instrument settings were established for 17 purines or pyrimidines. Stable-iso-tope-labeled reference compounds were used as internal standards when available. Results: Total analysis time of this method was 15 min
Purine and pyrimidine metabolism receive attention from a rapidly growing number of workers in the f...
LC-MS/MS chromatograms of A: the Cal06 calibrator (16 μM) and urine specimens from B: a healthy prob...
The general strategy to perform anti-doping analyses of urine samples starts with the screening for ...
A rapid and specific screening method for patients at risk of inherited disorders of purine and pyri...
Background: Clinical presentation and disease severity in disorders of purine and pyrimidine metabol...
BACKGROUND Clinical presentation and disease severity in disorders of purine and pyrimidine metaboli...
Urinary concentrations of thymine, uracil, and their degradation products are useful indicators of d...
Objectives: To develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to quantif...
urine is important for the diagnosis of many inborn errors of metabolism (IEM). Rapid, comprehensive...
Background and aimsInborn errors of purine and pyrimidine metabolism are a diverse group of disorder...
BACKGROUND AND AIMS:Inborn errors of purine and pyrimidine metabolism are a diverse group of disorde...
Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorde...
Background: The concentrations of the pyrimidine de novo metabolites and their degradation products ...
The determination of purines and pyrimidines in biofluids is useful for the clinical-biochemical cha...
Ultrahigh performance liquid chromatography-electrospray ionization-tandem mass spectrometry (UPLC-E...
Purine and pyrimidine metabolism receive attention from a rapidly growing number of workers in the f...
LC-MS/MS chromatograms of A: the Cal06 calibrator (16 μM) and urine specimens from B: a healthy prob...
The general strategy to perform anti-doping analyses of urine samples starts with the screening for ...
A rapid and specific screening method for patients at risk of inherited disorders of purine and pyri...
Background: Clinical presentation and disease severity in disorders of purine and pyrimidine metabol...
BACKGROUND Clinical presentation and disease severity in disorders of purine and pyrimidine metaboli...
Urinary concentrations of thymine, uracil, and their degradation products are useful indicators of d...
Objectives: To develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to quantif...
urine is important for the diagnosis of many inborn errors of metabolism (IEM). Rapid, comprehensive...
Background and aimsInborn errors of purine and pyrimidine metabolism are a diverse group of disorder...
BACKGROUND AND AIMS:Inborn errors of purine and pyrimidine metabolism are a diverse group of disorde...
Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorde...
Background: The concentrations of the pyrimidine de novo metabolites and their degradation products ...
The determination of purines and pyrimidines in biofluids is useful for the clinical-biochemical cha...
Ultrahigh performance liquid chromatography-electrospray ionization-tandem mass spectrometry (UPLC-E...
Purine and pyrimidine metabolism receive attention from a rapidly growing number of workers in the f...
LC-MS/MS chromatograms of A: the Cal06 calibrator (16 μM) and urine specimens from B: a healthy prob...
The general strategy to perform anti-doping analyses of urine samples starts with the screening for ...