uracil has been researched along with Metabolism, Inborn Errors in 8 studies
2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A patient with partial ornithine transcarbamylase deficiency and his mother usually excreted a high level of uracil during the period of normal orotic acid excretion and normal serum ammonia level." | 1.28 | Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching. ( Katoh, T; Kibe, T; Kidouchi, K; Kobayashi, M; Ohba, S; Wada, Y, 1991) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (12.50) | 18.7374 |
| 1990's | 4 (50.00) | 18.2507 |
| 2000's | 1 (12.50) | 29.6817 |
| 2010's | 2 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Nakajima, Y | 1 |
| Meijer, J | 1 |
| Dobritzsch, D | 1 |
| Ito, T | 1 |
| Zhang, C | 1 |
| Wang, X | 1 |
| Watanabe, Y | 1 |
| Tashiro, K | 1 |
| Meinsma, R | 1 |
| Roelofsen, J | 1 |
| Zoetekouw, L | 1 |
| van Kuilenburg, ABP | 1 |
| Yeung, CW | 1 |
| Yau, MM | 1 |
| Ma, CK | 1 |
| Siu, TS | 1 |
| Tam, S | 1 |
| Lam, CW | 1 |
| Talbot, HW | 1 |
| Naylor, EW | 1 |
| Guthrie, R | 1 |
| Yokota, H | 1 |
| Fernandez-Salguero, P | 1 |
| Furuya, H | 1 |
| Lin, K | 1 |
| McBride, OW | 1 |
| Podschun, B | 1 |
| Schnackerz, KD | 1 |
| Gonzalez, FJ | 1 |
| Sumi, S | 2 |
| Imaeda, M | 1 |
| Kidouchi, K | 3 |
| Ohba, S | 2 |
| Hamajima, N | 1 |
| Kodama, K | 1 |
| Togari, H | 2 |
| Wada, Y | 3 |
| Asai, M | 1 |
| Imaeda, H | 1 |
| Katoh, T | 1 |
| Kibe, T | 1 |
| Kobayashi, M | 1 |
| Jakobs, C | 1 |
| Stellaard, F | 1 |
| Smit, LM | 1 |
| van Vugt, JM | 1 |
| Duran, M | 1 |
| Berger, R | 1 |
| Rovers, P | 1 |
8 other studies available for uracil and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Topics: Amidohydrolases; Asian People; Brain; Catalytic Domain; Child; Child, Preschool; Crystallization; Fe | 2017 |
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.
Topics: Child, Preschool; China; Dihydropyrimidine Dehydrogenase Deficiency; Hong Kong; Humans; Male; Metabo | 2013 |
Neonatal urine screening for metabolic disease with auxotrophic strains of Bacillus subtilis.
Topics: Bacillus subtilis; Biological Assay; Homocystine; Humans; Infant, Newborn; Lysine; Metabolism, Inbor | 1982 |
cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria.
Topics: Amino Acid Sequence; Animals; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 1; Criceti | 1994 |
Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity.
Topics: Adult; Amidohydrolases; Child; Child, Preschool; Female; Fluorouracil; Genes, Recessive; Homozygote; | 1998 |
Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Liquid; Humans; Infant; Infant, Newborn; | 2000 |
Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; In | 1991 |
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiency.
Topics: Amniotic Fluid; Dihydrouracil Dehydrogenase (NADP); Female; Humans; Metabolism, Inborn Errors; Oxido | 1991 |