文献
J-GLOBAL ID:201702223899601224
整理番号:17A0925595
神経学的機能障害で溶血性貧血またはミオグロビン尿症のエピソードが無いことと関連した新規PGK1変異
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
著者 (7件):
Matsumaru Shigeto
(Department of Pediatrics, Tokyo Women’s Medical University)
,
Oguni Hirokazu
(Department of Pediatrics, Tokyo Women’s Medical University)
,
Ogura Hiromi
(Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University)
,
Shimojima Keiko
(Institute of Medical Genetics, Tokyo Women’s Medical University)
,
Nagata Satoru
(Department of Pediatrics, Tokyo Women’s Medical University)
,
Kanno Hitoshi
(Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University)
,
Yamamoto Toshiyuki
(Institute of Medical Genetics, Tokyo Women’s Medical University)
資料名:
Intractable & Rare Diseases Research
(Intractable & Rare Diseases Research)
巻:
6
号:
2
ページ:
132-136(J-STAGE)
発行年:
2017年
JST資料番号:
F1228A
ISSN:
2186-3644
CODEN:
IRDRA3
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
日本 (JPN)
言語:
英語 (EN)