pyrimidine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 21 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (14.29) | 18.7374 |
| 1990's | 6 (28.57) | 18.2507 |
| 2000's | 5 (23.81) | 29.6817 |
| 2010's | 7 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Akiyama, T; Kato, T; Kobayashi, K; Kuhara, T; Kurahashi, H; Maeda, Y; Nakajima, Y; Ohse, M; Tsuchiya, H; Yoshinaga, H | 1 |
| Cai, C; Fan, W; Fang, Y; Hu, W; Lin, S; Meng, Y; Shu, J; Sun, B; Wang, C; Zhang, C; Zhang, X; Zhang, Y | 1 |
| Bidon-Chanal, A; Drögemöller, B; Kulik, W; Mata-Ventosa, A; Meijer, J; Meinsma, R; Pastor-Anglada, M; Pérez-Torras, S; Ross, CJ; Tarailo-Graovac, M; van Cruchten, AG; van Karnebeek, CDM; van Kuilenburg, ABP; Viel-Oliva, A; Wassermann, WW | 1 |
| Peters, GJ; Puig, JG; Torres, RJ | 1 |
| Alhaddad, B; Botto, LD; Chen, MA; Colombo, R; Coughlin, CR; Descartes, M; Grűnewald, S; Kluijtmans, LA; Maranda, B; Mills, PB; Pai, EF; Pitt, J; Pontoglio, A; Potente, C; Rodenburg, R; Sampath, S; Tiller, GE; Wevers, RA; Wortmann, SB; Yuzyuk, T | 1 |
| Ito, T | 1 |
| Micheli, V; Sestini, S | 1 |
| Au, KM; Chan, AY; Lai, CK; Lam, CW; Shek, CC; Yuen, YP | 1 |
| SMITH, LH | 1 |
| Abeling, NG; Assmann, B; Beke, E; Busch, R; Hoffmann, GF; Kulik, W; Lorente, I; Mayatepek, E; Meinsma, R; Ribes, A; Rutsch, F; Stroomer, AE; van Cruchten, A; van Gennip, AH; van Kuilenburg, AB; van Lenthe, H; Voit, T; Wevers, RA; Zoetekouw, L | 1 |
| Fairbanks, LD; Löffler, M; Marinaki, AM; Simmonds, HA; Zameitat, E | 1 |
| Kidouchi, K; Morishita, H; Ohba, S; Suchi, M; Sumi, S; Wada, Y | 1 |
| Abeling, NG; van Gennip, AH; van Kuilenburg, AB; Vreken, P | 1 |
| Allers, P; Berger, R; Dorland, L; Duran, M; Meuleman, EE | 1 |
| Duley, JA; Fairbanks, LD; McBride, MB; Simmonds, HA | 1 |
| Mizuno, H; Suchi, M; Wada, Y | 1 |
| van Gennip, AH; van Kuilenburg, AB | 1 |
| Kiang, DT; Mirkin, BL; O'Dea, RF; Ramnaraine, ML; Stoeckeler, JS; Tuchman, M | 1 |
7 review(s) available for pyrimidine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Children's toxicology from bench to bed--Liver injury (1): Drug-induced metabolic disturbance--toxicity of 5-FU for pyrimidine metabolic disorders and pivalic acid for carnitine metabolism.
Topics: Amidohydrolases; Animals; Anti-Bacterial Agents; Antineoplastic Agents; Carnitine; Cephalosporins; Child; Dihydropyrimidine Dehydrogenase Deficiency; Female; Fluorouracil; Humans; Intestinal Absorption; Pentanoic Acids; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Rats | 2009 |
Pyrimidine pathways in health and disease.
Topics: Health; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Signal Transduction | 2005 |
Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects.
Topics: Amidohydrolases; Animals; Dihydrouracil Dehydrogenase (NADP); Humans; Oxidoreductases; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 1997 |
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
Topics: Animals; Artifacts; Chromatography; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines; Uric Acid | 1997 |
When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.
Topics: Biomarkers; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 1997 |
[Hereditary orotic aciduria].
Topics: Biomarkers; Humans; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 1998 |
Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.
Topics: 4-Aminobutyrate Transaminase; Amidohydrolases; Dihydrouracil Dehydrogenase (NADP); Humans; Mutation; Oxidoreductases; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Transaminases | 2000 |
14 other study(ies) available for pyrimidine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.
Topics: Adolescent; Chromatography, Liquid; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Metabolome; Muscle Cramp; Neural Conduction; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 2019 |
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Topics: Abnormalities, Multiple; Amidohydrolases; Aminoisobutyric Acids; Asian People; beta-Alanine; Brain Diseases; Child, Preschool; Computational Biology; Female; Genetic Testing; Humans; Infant; Infant, Newborn; Male; Metabolomics; Movement Disorders; Mutation, Missense; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 2019 |
Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Topics: Fatal Outcome; Humans; Infant; Infant, Newborn; Male; Membrane Transport Proteins; Multiple Organ Failure; Perforin; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 2019 |
Proceedings of the 15th International Symposium on Purine and Pyrimidine Metabolism in Man, June 9-13, 2013, Madrid, Spain.
Topics: Animals; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 2014 |
Novel developments in metabolic disorders of purine and pyrimidine metabolism and therapeutic applications of their analogs.
Topics: Awards and Prizes; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 2014 |
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Topics: Anemia, Megaloblastic; Child; Child, Preschool; Female; Heterozygote; Humans; Infant; Intellectual Disability; Male; Multienzyme Complexes; Mutation; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Urea Cycle Disorders, Inborn; Uridine | 2017 |
Inborn errors of purine and pyrimidine metabolism: how much we owe to H. Anne Simmonds.
Topics: Cooperative Behavior; Erythrocytes; History, 20th Century; Humans; Metabolic Networks and Pathways; Models, Biological; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 2011 |
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.
Topics: Dihydrouracil Dehydrogenase (NADP); Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Male; Oxidoreductases; Point Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Seizures; Thymine; Uracil | 2003 |
HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN.
Topics: Anemia; Anemia, Macrocytic; Genetics, Medical; Humans; Male; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Rare Diseases; Urine | 1965 |
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Topics: Amidohydrolases; Aminoisobutyric Acids; beta-Alanine; Central Nervous System Diseases; Female; Humans; Infant; Liver; Male; Mutation; Oxidative Stress; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 2004 |
Pyrimidine metabolism in hereditary orotic aciduria.
Topics: Child; Follow-Up Studies; Humans; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines | 1997 |
Proceedings of the joint 9th International/6th European Symposium on Purine and Pyrimidine Metabolism in Man. Gmunden, Austria, June 1-7, 1997.
Topics: Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 1998 |
Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity.
Topics: Adult; Breast Neoplasms; Carcinoma, Intraductal, Noninfiltrating; Female; Fluorouracil; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Thymine; Uracil | 1985 |
Purine and pyrimidine metabolism in man V. Part A: Clinical aspects including molecular genetics. Festschrift for J.E. Seegmiller.
Topics: Biochemistry; History, 20th Century; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Pyrimidines | 1986 |