Associated Papers
Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.
Guan L et al.
European Journal of Medical Research, 2026
41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
Rapid screening of UPB1 gene variations by high resolution melting curve analysis.
Xu X et al.
Experimental and Therapeutic Medicine, 2021
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug-related toxicity in patients with cancer.
Yokoi K et al.
Cancer Science, 2020
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Fang Y et al.
Medicine, 2019
Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism.
Maurer D et al.
The Biochemical Journal, 2018
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
Lee JH et al.
Jimd Reports, 2015
Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China.
Shu J et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2014
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y et al.
Journal of Inherited Metabolic Disease, 2014
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