uracil has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 32 studies
2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 11 (34.38) | 18.7374 |
| 1990's | 15 (46.88) | 18.2507 |
| 2000's | 6 (18.75) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Au, KM | 1 |
| Lai, CK | 1 |
| Yuen, YP | 1 |
| Shek, CC | 1 |
| Lam, CW | 1 |
| Chan, AY | 1 |
| Van Kuilenburg, AB | 8 |
| Stroomer, AE | 1 |
| Van Lenthe, H | 2 |
| Abeling, NG | 4 |
| Van Gennip, AH | 9 |
| Al-Sanna'a, NA | 1 |
| Atrak, TM | 1 |
| Abdul-Jabbar, MA | 1 |
| Assmann, BE | 1 |
| Distelmaier, F | 1 |
| Rosenbaum, T | 1 |
| Schaper, J | 1 |
| Duran, M | 5 |
| Mayatepek, E | 1 |
| Brussel, W | 1 |
| Janssens, PM | 1 |
| Berger, R | 4 |
| Stoker-de Vries, SA | 2 |
| Wadman, SK | 4 |
| Beemer, FA | 3 |
| de Bree, PK | 5 |
| Weits-Binnerts, JJ | 2 |
| Penders, TJ | 2 |
| van der Woude, JK | 2 |
| Ketting, D | 1 |
| van Sprang, FJ | 1 |
| Bakker, HD | 1 |
| Henderson, MJ | 1 |
| Jones, S | 2 |
| Walker, P | 1 |
| Duley, J | 1 |
| Simmonds, HA | 2 |
| Ohba, S | 2 |
| Kidouchi, K | 3 |
| Sumi, S | 4 |
| Imaeda, M | 2 |
| Takeda, N | 1 |
| Yoshizumi, H | 1 |
| Tatematsu, A | 1 |
| Kodama, K | 1 |
| Yamanaka, K | 1 |
| Kobayashi, M | 1 |
| Meinsma, R | 2 |
| Fernandez-Salguero, P | 1 |
| Gonzalez, FJ | 2 |
| Van Acker, KJ | 1 |
| Eyskens, FJ | 1 |
| Verkerk, RM | 1 |
| Scharpé, SS | 1 |
| Wada, Y | 5 |
| Fernandez-Salguero, PM | 1 |
| Sapone, A | 1 |
| Wei, X | 1 |
| Holt, JR | 1 |
| Idle, JR | 1 |
| Vreken, P | 2 |
| De Abreu, RA | 3 |
| Davies, PM | 1 |
| Fairbanks, LD | 1 |
| Duley, JA | 1 |
| Kouwaki, M | 1 |
| Hayashi, K | 1 |
| Asai, M | 1 |
| Ito, T | 1 |
| Ueta, A | 1 |
| Grift, J | 1 |
| Zegers, BJ | 1 |
| Stoop, JW | 1 |
| Rovers, P | 1 |
| Schreuder, CH | 1 |
| Beukenhorst, H | 1 |
| Dorland, L | 1 |
| Busch, S | 1 |
| Scholten, EG | 1 |
| Stroomer, LE | 1 |
| Adolph, KJ | 1 |
| Fung, E | 1 |
| McLeod, DR | 1 |
| Morgan, K | 1 |
| Snyder, FF | 1 |
| Tuchman, M | 1 |
| Stoeckeler, JS | 1 |
| Kiang, DT | 1 |
| O'Dea, RF | 1 |
| Ramnaraine, ML | 1 |
| Mirkin, BL | 1 |
| Bakkeren, JA | 1 |
| Braakhekke, J | 1 |
| Gabreels, FJ | 1 |
| Maas, JM | 1 |
| Sengers, RC | 1 |
| Wilcken, B | 1 |
| Hammond, J | 1 |
| Wise, G | 1 |
| James, C | 1 |
| Arakawa, T | 1 |
| Cotton, RG | 1 |
| Camakaris, J | 1 |
| Danks, DM | 1 |
| Becroft, DM | 1 |
| Phillips, LI | 1 |
| Simmonds, A | 1 |
4 reviews available for uracil and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Dihydropyrimidine dehydrogenase deficiency].
Topics: Diagnosis, Differential; Dihydrouracil Dehydrogenase (NADP); Humans; Mutation; Oxidoreductases; Prog | 1998 |
[Inborn errors of pyrimidine metabolism].
Topics: Diagnosis, Differential; Dihydrouracil Dehydrogenase (NADP); Humans; Intellectual Disability; Oxidor | 2000 |
[Inborn errors of purine and pyrimidine metabolism].
Topics: Gout; Humans; Orotic Acid; Purine-Pyrimidine Metabolism, Inborn Errors; Transferases; Uracil; Xanthi | 1967 |
[Treatment of congenital purine-pyrimidine metabolism anomalies].
Topics: Athetosis; Chorea; Compulsive Behavior; Gout; Humans; Intellectual Disability; Orotic Acid; Purine-P | 1971 |
28 other studies available for uracil and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.
Topics: Dihydrouracil Dehydrogenase (NADP); Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; M | 2003 |
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
Topics: Aminoisobutyric Acids; beta-Alanine; Brain Diseases, Metabolic, Inborn; Dihydropyrimidine Dehydrogen | 2004 |
Dihydropyrimidine dehydrogenase deficiency presenting at birth.
Topics: Age of Onset; Antimetabolites; Binding Sites; Digestive System Abnormalities; Dihydropyrimidine Dehy | 2005 |
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
Topics: Amidohydrolases; Atrophy; Central Nervous System Diseases; Diagnosis, Differential; Fever; Hematoma, | 2006 |
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.
Topics: Developmental Disabilities; Dihydrouracil Dehydrogenase (NADP); Female; Homozygote; Humans; Infant; | 2006 |
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Topics: Adolescent; Child; Child, Preschool; Chromatography, Thin Layer; Dihydrouracil Dehydrogenase (NADP); | 1984 |
New defects of pyrimidine metabolism.
Topics: Child, Preschool; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Humans; Purine-Pyrimidi | 1984 |
Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Fibroblasts; Heterozygote; Humans; Leukocytes; | 1995 |
Heterogeneity of symptomatology in two male siblings with thymine uraciluria.
Topics: Child, Preschool; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Language Developmen | 1995 |
Dihydropyrimidinuria: the first case in Japan.
Topics: Chromatography, High Pressure Liquid; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; | 1994 |
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
Topics: Base Sequence; Cells, Cultured; Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Exons; Female; | 1995 |
Urinary excretion of purine and pyrimidine metabolites in the neonate.
Topics: Chromatography; Evaluation Studies as Topic; Female; Heterozygote; Humans; Infant, Newborn; Male; Ma | 1993 |
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Topics: Adenine; Adenosine; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Orotic Acid; Pseudou | 1995 |
Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.
Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Genotype; Humans; Male; Molecular Sequence Dat | 1997 |
Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression.
Topics: Adult; Child, Preschool; Dihydrouracil Dehydrogenase (NADP); DNA, Complementary; Female; Frameshift | 1997 |
Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Nervous S | 1997 |
Clinical and biochemical aspects of dihydropyrimidinase deficiency.
Topics: Amidohydrolases; Biomarkers; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; | 1998 |
Urinary screening for pyrimidine metabolism disorders. Reference ranges for dihydrouracil, uracil, and dihydrouracil/uracil ratio.
Topics: Adult; Cerebral Infarction; Dihydrouracil Dehydrogenase (NADP); Female; Humans; Hypertension; Liver | 1998 |
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.
Topics: Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deoxycytidine; Humans; I | 1979 |
Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism.
Topics: Alanine; Amidohydrolases; Chromatography, High Pressure Liquid; Fibroblasts; Humans; Infant; Liver; | 1991 |
Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine.
Topics: Amidohydrolases; Amino Acids; beta-Alanine; Chromatography, Ion Exchange; Humans; Purine-Pyrimidine | 1991 |
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.
Topics: Alberta; Consanguinity; Dihydrouracil Dehydrogenase (NADP); Ethnicity; Humans; Infant, Newborn; Male | 1991 |
Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity.
Topics: Adult; Breast Neoplasms; Carcinoma, Intraductal, Noninfiltrating; Female; Fluorouracil; Humans; Male | 1985 |
Dihydrothymine dehydrogenase deficiency in a family, leading to elevated levels of uracil and thymine.
Topics: Child; Chromatography, Gas; Dihydrouracil Dehydrogenase (NAD+); Female; Fibroblasts; Humans; Male; O | 1986 |
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Humans; Male; Oxidoreductases; Purine-Pyrimidi | 1985 |
Dihydropyrimidine dehydrogenase deficiency--a further case.
Topics: Dihydrouracil Dehydrogenase (NADP); Humans; Infant; Male; Oxidoreductases; Purine-Pyrimidine Metabol | 1985 |
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12.
Topics: Adenine; Alanine; Aspartic Acid; Biological Assay; Carbamates; Child; Chromatography, Paper; Cytosin | 1970 |
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.
Topics: Alanine; Anemia, Macrocytic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; | 1969 |