n-carbamoyl-beta-alanine has been researched along with Epilepsies, Myoclonic in 1 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.
Epilepsies, Myoclonic: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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 | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 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 |
1 other study available for n-carbamoyl-beta-alanine and Epilepsies, Myoclonic
| 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 |