Yoko Nakajima   Judith Meijer   Doreen Dobritzsch   Tetsuya Ito   Chunhua Zhang   Xu Wang   Yoriko Watanabe   Kyoko Tashiro   Rutger Meinsma   Jeroen Roelofsen   Lida Zoetekouw   Andre 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...