A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

[1]  A. V. van Kuilenburg,et al.  Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. , 2017, Molecular genetics and metabolism.

[2]  Katsuhiro Kobayashi,et al.  A Japanese case of β-ureidopropionase deficiency with dysmorphic features , 2017, Brain and Development.

[3]  A. V. van Kuilenburg,et al.  Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene , 2016, International journal of molecular sciences.

[4]  M. Hiratsuka,et al.  Genetic Polymorphisms of Dihydropyrimidinase in a Japanese Patient with Capecitabine-Induced Toxicity , 2015, PloS one.

[5]  C. Ma,et al.  Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria. , 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

[6]  M. Durán,et al.  Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. , 2010, Biochimica et Biophysica Acta.

[7]  F. Baas,et al.  Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. , 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

[8]  Y. Wada,et al.  Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency. , 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[9]  P. Vreken,et al.  Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. , 1998, American journal of human genetics.

[10]  H. Togari,et al.  Population and family studies of dihydropyrimidinuria: prevalence, inheritance mode, and risk of fluorouracil toxicity. , 1998, American journal of medical genetics.