Eikan Mishima   Takayasu Mori   Yoko Nakajima   Takafumi Toyohara   Koichi Kikuchi   Yoshitsugu Oikawa   Tetsuro Matsuhashi   Yasuhiro Maeda   Takehiro Suzuki   Masataka Kudo   Sadayoshi Ito   Eisei Sohara   Shinichi Uchida   Takaaki Abe   
CEN case reports 9(3) 210-214 2020年8月 [査読有り]
Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch-Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Herein, we describe a 22-year-old man without neurol...