beta-alanine has been researched along with Abnormalities, Multiple in 6 studies
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-beta-alaninemia and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT)." | 7.69 | Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. ( Barton, NW; Bernardini, I; Brady, RO; Higgins, JJ; Kaneski, CR, 1994) |
| "We report intermittent seizures, lethargy, and Cohen's syndrome in a 4-year-old girl with hyper-beta-alaninemia and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT)." | 3.69 | Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome. ( Barton, NW; Bernardini, I; Brady, RO; Higgins, JJ; Kaneski, CR, 1994) |
| "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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (16.67) | 18.2507 |
| 2000's | 2 (33.33) | 29.6817 |
| 2010's | 2 (33.33) | 24.3611 |
| 2020's | 1 (16.67) | 2.80 |
| Authors | Studies |
|---|---|
| Dobritzsch, D | 1 |
| Meijer, J | 2 |
| Meinsma, R | 2 |
| Maurer, D | 1 |
| Monavari, AA | 1 |
| Gummesson, A | 1 |
| Reims, A | 1 |
| Cayuela, JA | 1 |
| Kuklina, N | 1 |
| Benoist, JF | 1 |
| Perrin, L | 1 |
| Assmann, B | 2 |
| Hoffmann, GF | 2 |
| Bierau, J | 1 |
| Kaindl, AM | 1 |
| van Kuilenburg, ABP | 1 |
| Fang, Y | 1 |
| Cai, C | 1 |
| Wang, C | 1 |
| Sun, B | 1 |
| Zhang, X | 1 |
| Fan, W | 1 |
| Hu, W | 1 |
| Meng, Y | 1 |
| Lin, S | 1 |
| Zhang, C | 1 |
| Zhang, Y | 1 |
| Shu, J | 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 |
| Yaplito-Lee, J | 1 |
| Pitt, J | 1 |
| Zoetekouw, L | 1 |
| van Kuilenburg, AB | 2 |
| Higgins, JJ | 1 |
| Kaneski, CR | 1 |
| Bernardini, I | 1 |
| Brady, RO | 1 |
| Barton, NW | 1 |
| van Lenthe, H | 1 |
| Ratmann, GG | 1 |
| Brautigam, C | 1 |
| van Gennip, AH | 1 |
6 other studies available for beta-alanine and Abnormalities, Multiple
| Article | Year |
|---|---|
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Topics: Abnormalities, Multiple; Amidohydrolases; Animals; beta-Alanine; Brain Diseases; Humans; Mammals; Mo | 2022 |
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Topics: Abnormalities, Multiple; Amidohydrolases; Aminoisobutyric Acids; Asian People; beta-Alanine; Brain D | 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 |
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
Topics: Abnormalities, Multiple; Amidohydrolases; Aminoisobutyric Acids; beta-Alanine; Colon; Humans; Infant | 2008 |
Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome.
Topics: 4-Aminobutyrate Transaminase; Abnormalities, Multiple; beta-Alanine; Child; Female; Humans; Intellec | 1994 |
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.
Topics: Abnormalities, Multiple; Amidohydrolases; beta-Alanine; Dihydrouracil Dehydrogenase (NADP); Female; | 2000 |