n-carbamoyl-beta-alanine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 3 studies
N-carbamoyl-beta-alanine: RN given refers to parent cpd
N-carbamoyl-beta-alanine : A beta-alanine derivative that is propionic acid bearing a ureido group at position 3.
| 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) |
| "The differentiation between Dravet syndrome and β-ureidopropionase deficiency is clinically challenging since both conditions share overlapping clinical features." | 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| 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 |
| van Gennip, AH | 1 |
| Busch, S | 1 |
| Scholten, EG | 1 |
| Stroomer, LE | 1 |
| Abeling, NG | 1 |
1 trial available for n-carbamoyl-beta-alanine 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 |
2 other studies available for n-carbamoyl-beta-alanine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
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 |
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 |