The Japanese Biochemical Society

第87回日本生化学会大会

第87回日本生化学会大会

Oct 15, 2014 - Oct 18, 2014
Kyoto International Conference Center / Grand Prince Hotel Kyoto

2:20 PM - 3:20 PM

[4P-414] (4T15p-03)Identification and characterization of the Japanese cases with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency.

○Yamada Kenichiro1, Naiki Misako2, Hoshino Shin3, Kitaura Yasuyuki4, Kondo Yusuke4, Nomura Noriko1, Kimura Reiko1, Fukushi Daisuke1, Yamada Yasukazu1, Shimozawa Nobuyuki5, Yamaguchi Seiji6, Shimomura Yoshiharu4, Miura Kiyokuni7, Wakamatsu Nobuaki1 (1.Dept. Genet., Inst. Developmental Res., Aichi Human Service Ctr., 2.Dept. Pediatr., Med., Nagoya Univ., 3.Dept. Pediatr., Kasugai Municip. Hosp., 4.Dept. Appl. Mol. Biosci., Bioagricul. Sci., Nagoya Univ., 5.Div. Genom. Res., Life Sci. Res Ctr., Gifu Univ., 6.Dept. Pediatr., Med., Shimane Univ., 7.Dept. Developmental. Disabl., Med., Nagoya Univ.)

HIBCH, valine catabolic pathway, Leigh-like disease, ketoacidosis

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