beta-alanine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 9 studies
| 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (11.11) | 18.2507 |
| 2000's | 4 (44.44) | 29.6817 |
| 2010's | 3 (33.33) | 24.3611 |
| 2020's | 1 (11.11) | 2.80 |
| Authors | Studies |
|---|---|
| Dobritzsch, D | 2 |
| Meijer, J | 2 |
| Meinsma, R | 3 |
| 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 | 4 |
| Hoffmann, GF | 3 |
| 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 | 2 |
| 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 |
| van Kuilenburg, AB | 4 |
| Krumpel, M | 1 |
| Selim, LA | 1 |
| Rashed, MS | 1 |
| Lohkamp, B | 1 |
| Ito, T | 1 |
| Abeling, NG | 4 |
| Saito, K | 1 |
| Eto, K | 1 |
| Smitka, M | 1 |
| Engvall, M | 1 |
| Xu, W | 1 |
| Zoetekouw, L | 2 |
| Hennekam, RC | 1 |
| Ohse, M | 1 |
| Matsuo, M | 1 |
| Ishida, A | 1 |
| Kuhara, T | 1 |
| Stroomer, AE | 2 |
| Van Lenthe, H | 2 |
| Van Gennip, AH | 4 |
| Beke, E | 1 |
| Ribes, A | 1 |
| Lorente, I | 1 |
| Busch, R | 1 |
| Mayatepek, E | 2 |
| van Cruchten, A | 1 |
| Kulik, W | 1 |
| Voit, T | 2 |
| Wevers, RA | 2 |
| Rutsch, F | 1 |
| Göhlich, G | 1 |
| Baethmann, M | 1 |
| Dietrich, C | 1 |
| Wagner, L | 1 |
| Rotteveel, JJ | 1 |
| Schaper, J | 1 |
| Busch, S | 1 |
| Scholten, EG | 1 |
| Stroomer, LE | 1 |
1 trial available for 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 |
8 other studies available for beta-alanine and Purine Pyrimidine Metabolism, Inborn Errors
| 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 |
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Topics: Adult; Amidohydrolases; Amino Acid Sequence; Amino Acid Substitution; Aminoisobutyric Acids; Animals | 2012 |
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
Topics: Aminoisobutyric Acids; beta-Alanine; Brain Diseases, Metabolic, Inborn; Dihydropyrimidine Dehydrogen | 2004 |
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
Topics: Amidohydrolases; Aminoisobutyric Acids; beta-Alanine; Central Nervous System Diseases; Female; Human | 2004 |
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
Topics: Amidohydrolases; beta-Alanine; Electroencephalography; Female; Humans; Infant; Magnetic Resonance Im | 2006 |
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 |