13 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 35151535 | β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. | 2022 Jul | 1 |
2 | 30608453 | Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency. | 2019 Jan | 2 |
3 | 29976570 | Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism. | 2018 Jul 31 | 4 |
4 | 27553092 | A Japanese case of β-ureidopropionase deficiency with dysmorphic features. | 2017 Jan | 2 |
5 | 25445412 | NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome. | 2015 Feb 2 | 1 |
6 | 25638458 | A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly. | 2015 | 2 |
7 | 24940676 | Publisher's note. Identification of a novel synonymous mutation in the human β-ureidopropionase gene UPB1 affecting pre-mRNA splicing. | 2014 | 1 |
8 | 24328561 | Identification of a novel synonymous mutation in the human β -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing. | 2013 | 1 |
9 | 17065070 | Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. | 2006 | 1 |
10 | 15385443 | beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. | 2004 Nov 15 | 1 |
11 | 11804209 | Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. | 2001 Dec | 1 |
12 | 7765578 | Thermostable N-carbamoyl-D-amino acid amidohydrolase: screening, purification and characterization. | 1994 Nov 30 | 1 |
13 | 3931905 | Enzymes of uracil catabolism in normal and neoplastic human tissues. | 1985 Nov | 1 |