The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
Fukao, Toshiyuki, Akiba, Kazuhisa, Goto, Masahiro, Kuwayama, Nobuki, Morita, Mikiko, Hori, Tomohiro, Aoyama, Yuka, Venkatesan, Rajaram, Wierenga, Rik, Moriyama, Yohsuke, Hashimoto, Takashi, Usuda, NobVolume:
59
Langue:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2014.79
Date:
November, 2014
Fichier:
PDF, 879 KB
english, 2014