Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

by Kenichiro Yamada, Misako Naiki, Shin Hoshino, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Reiko Kimura, Daisuke Fukushi, Yasukazu Yamada, Nobuyuki Shimozawa, Seiji Yamaguchi, Yoshiharu Shimomura, Kiyokuni Miura, Nobuaki Wakamatsu
Published 2014-01-01