Yoko Nakajima   Judith Meijer   Doreen Dobritzsch   Tetsuya Ito   Chunhua Zhang   Xu Wang   Yoriko Watanabe   Kyoko Tashiro   Rutger Meinsma   Jeroen Roelofsen   Lida Zoetekouw   André B P van Kuilenburg   
Molecular genetics and metabolism 122(4) 216-222 2017年12月 [査読有り]
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 report...