Article
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Molecular genetics and metabolism - 1 Dec 2017
Nakajima Yoko, Meijer Judith, Dobritzsch Doreen, Ito Tetsuya, Zhang Chunhua, Wang Xu, Watanabe Yoriko, Tashiro Kyoko, Meinsma Rutger, Roelofsen Jeroen, Zoetekouw Lida, van Kuilenburg André B P
Abstract excerpt
Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyzes the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 31 genetically confirmed patients with a DHP deficiency have been reported and the clinical, biochemical and genetic spectrum of DHP deficient patients is, therefore, still largely unknown. Here, we show that 4 newly identified DHP deficient...
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