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beta-ureidoisobutyric acid and Purine Pyrimidine Metabolism, Inborn Errors

beta-ureidoisobutyric acid has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's2 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bierau, J; Garbade, SF; Haas, D; Hauke, J; Hoffmann, GF; Klinke, G; Langhans, CD; Monostori, P; Okun, JG; Richter, S1
Chan, B; Chan, KY; Lai, CK; Lam, CW; Law, CY; Leung, KF; Mak, CM; Pak-lam Chen, S; Yan-wo Chan, A; Yuen, YP1
Ishida, A; Kuhara, T; Matsuo, M; Ohse, M1

Trials

1 trial(s) available for beta-ureidoisobutyric acid and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.
    Journal of mass spectrometry : JMS, 2002, Volume: 37, Issue:9

    Topics: Amidohydrolases; beta-Alanine; Calibration; Gas Chromatography-Mass Spectrometry; Humans; Indicators and Reagents; Infant, Newborn; Magnetic Resonance Spectroscopy; Neonatal Screening; Pilot Projects; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Reproducibility of Results; Urea; Urease

2002

Other Studies

2 other study(ies) available for beta-ureidoisobutyric acid and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
    PloS one, 2019, Volume: 14, Issue:2

    Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Quality Control; Reference Values; Ribonucleotides; Tandem Mass Spectrometry; Urea; Uridine

2019
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 2015, Feb-02, Volume: 440

    Topics: Abnormalities, Multiple; Amidohydrolases; beta-Alanine; Brain Diseases; Epilepsies, Myoclonic; Gas Chromatography-Mass Spectrometry; Homozygote; Humans; Infant; Magnetic Resonance Spectroscopy; Male; Movement Disorders; NAV1.1 Voltage-Gated Sodium Channel; Purine-Pyrimidine Metabolism, Inborn Errors; Urea; Urinalysis

2015