urea has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 7 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The urease pretreatment of urine without fractionation resulted in a high recovery of these polar ureide compounds and allowed the highly sensitive GC/MS detection and diagnosis of betaUPase deficiency." | 2.70 | Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine. ( Ishida, A; Kuhara, T; Matsuo, M; Ohse, M, 2002) |
| "In addition, genetic analysis for Dravet syndrome showed the presence of heterozygous disease-causing mutation SCN1A NM_001165963." | 1.42 | NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome. ( Chan, B; Chan, KY; Lai, CK; Lam, CW; Law, CY; Leung, KF; Mak, CM; Pak-lam Chen, S; Yan-wo Chan, A; Yuen, YP, 2015) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (57.14) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (14.29) | 29.6817 |
| 2010's | 2 (28.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Monostori, P | 1 |
| Klinke, G | 1 |
| Hauke, J | 1 |
| Richter, S | 1 |
| Bierau, J | 1 |
| Garbade, SF | 1 |
| Hoffmann, GF | 1 |
| Langhans, CD | 1 |
| Haas, D | 1 |
| Okun, JG | 1 |
| Lam, CW | 1 |
| Law, CY | 1 |
| Leung, KF | 1 |
| Lai, CK | 1 |
| Pak-lam Chen, S | 1 |
| Chan, B | 1 |
| Chan, KY | 1 |
| Yuen, YP | 1 |
| Mak, CM | 1 |
| Yan-wo Chan, A | 1 |
| Ohse, M | 1 |
| Matsuo, M | 1 |
| Ishida, A | 1 |
| Kuhara, T | 1 |
| Yoshino, M | 1 |
| Kubota, K | 1 |
| Yoshida, I | 1 |
| Murakami, T | 1 |
| Yamashita, F | 1 |
| Snyderman, SE | 1 |
| Beaudry, MA | 1 |
| Letarte, J | 1 |
| Collu, R | 1 |
| Leboeuf, G | 1 |
| Ducharme, JR | 1 |
| Melancon, SB | 1 |
| Dallairf, L | 1 |
| Levine, RL | 1 |
| Hoogenraad, NJ | 1 |
| Kretchmer, N | 1 |
2 reviews available for urea and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
A review: biological and clinical aspects of pyrimidine metabolism.
Topics: Ammonia; Animals; Cats; Cell Transformation, Neoplastic; Cytidine; Glucose; Humans; Isoproterenol; L | 1974 |
1 trial available for urea and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine.
Topics: Amidohydrolases; beta-Alanine; Calibration; Gas Chromatography-Mass Spectrometry; Humans; Indicators | 2002 |
4 other studies available for urea and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromat | 2019 |
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
Topics: Abnormalities, Multiple; Amidohydrolases; beta-Alanine; Brain Diseases; Epilepsies, Myoclonic; Gas C | 2015 |
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargi | 1982 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |