文献
J-GLOBAL ID:201502286409425879
整理番号:15A0306456
非典型的症状を示す2-メチル-3-ヒドロキシブチリル-CoA脱水素酵素欠損症(HSD10病)のアジアにおける最初の症例
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
著者 (18件):
FUKAO Toshiyuki
(Gifu Univ., Gifu, JPN)
,
AKIBA Kazuhisa
(Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN)
,
GOTO Masahiro
(Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN)
,
KUWAYAMA Nobuki
(Gifu Univ., Gifu, JPN)
,
MORITA Mikiko
(Gifu Univ., Gifu, JPN)
,
HORI Tomohiro
(Gifu Univ., Gifu, JPN)
,
AOYAMA Yuka
(Gifu Univ., Gifu, JPN)
,
VENKATESAN Rajaram
(Univ. Oulu, Oulu, FIN)
,
WIERENGA Rik
(Univ. Oulu, Oulu, FIN)
,
MORIYAMA Yohsuke
(Fujita Health Univ. School of Medicine, Toyoake, JPN)
,
HASHIMOTO Takashi
(Fujita Health Univ. School of Medicine, Toyoake, JPN)
,
USUDA Nobuteru
(Fujita Health Univ. School of Medicine, Toyoake, JPN)
,
MURAYAMA Kei
(Chiba Children’s Hospital, Chiba, JPN)
,
OHTAKE Akira
(Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN)
,
OHTAKE Akira
(Saitama Medical Univ., Moroyama, JPN)
,
HASEGAWA Yuki
(Shimane Univ. School of Medicine, Izumo, JPN)
,
SHIGEMATSU Yosuke
(Univ. Fukui, Eiheiji-cho, JPN)
,
HASEGAWA Yukihiro
(Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN)
資料名:
Journal of Human Genetics
(Journal of Human Genetics)
巻:
59
号:
11
ページ:
609-614
発行年:
2014年11月
JST資料番号:
Z0756A
ISSN:
1434-5161
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)