Associated Papers
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
34347148 (PubMed )
Supplement: 431_2021_4213_MOESM3_ESM.xlsx › Supplementary_table_3b
In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.
Hishinuma E et al.
Journal of Clinical Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.
Fang Y et al.
Medicine, 2019
Genotypes Affecting the Pharmacokinetics of Anticancer Drugs.
Bertholee D et al.
Clinical Pharmacokinetics, 2017
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
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 2012
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.
Yaplito-Lee J et al.
Molecular Genetics and Metabolism, 2008
Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism.
Thomas HR et al.
Pharmacogenetics and Genomics, 2008
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency.
van Kuilenburg AB et al.
Nucleosides, Nucleotides & Nucleic Acids, 2006
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
van Kuilenburg AB et al.
Human Molecular Genetics, 2004
Select a paper to view details