Page last updated: 2024-08-21

pyrimidine and Metabolism, Inborn Errors

pyrimidine has been researched along with Metabolism, Inborn Errors in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (50.00)29.6817
2010's2 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Lichter-Konecki, U; Sklirou, E1
Akiyama, T; Kato, T; Kobayashi, K; Kuhara, T; Kurahashi, H; Maeda, Y; Nakajima, Y; Ohse, M; Tsuchiya, H; Yoshinaga, H1
Asai, M; Imaeda, H; Kidouchi, K; Sumi, S; Togari, H; Wada, Y1
Adam, T; Friedecký, D; Lochman, P1

Reviews

1 review(s) available for pyrimidine and Metabolism, Inborn Errors

ArticleYear
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
    Pediatric clinics of North America, 2018, Volume: 65, Issue:2

    Topics: Cognitive Dysfunction; Creatine; Diagnosis, Differential; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Phenylalanine; Purines; Pyrimidines

2018

Other Studies

3 other study(ies) available for pyrimidine and Metabolism, Inborn Errors

ArticleYear
A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.
    Brain & development, 2019, Volume: 41, Issue:3

    Topics: Adolescent; Chromatography, Liquid; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Metabolome; Muscle Cramp; Neural Conduction; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines

2019
Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases.
    Pediatrics international : official journal of the Japan Pediatric Society, 2000, Volume: 42, Issue:5

    Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Liquid; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Orotic Acid; Pyrimidines; Uracil

2000
Screening method for inherited disorders of purine and pyrimidine metabolism by capillary electrophoresis with reversed electroosmotic flow.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2002, Feb-15, Volume: 767, Issue:2

    Topics: Adolescent; Child; Child, Preschool; Electrophoresis, Capillary; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Purines; Pyrimidines; Reproducibility of Results; Sensitivity and Specificity

2002