pyrimidine

beta-ureidopropionase 1 ; Homo sapiens







13 Article(s)
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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