Yoko Nakajima   Judith Meijer   Chunhua Zhang   Xu Wang   Tomomi Kondo   Tetsuya Ito   Doreen Dobritzsch   André Van Kuilenburg   
International Journal of Molecular Sciences 17(1) 86-86 2016年1月
Dihydropyrimidinase (DHP) deficiency is an autosomal recessive disease caused by mutations in the DPYS gene. Patients present with highly elevated levels of dihydrouracil and dihydrothymine in their urine, blood and cerebrospinal fluid. The analys...