文献
J-GLOBAL ID:201102255300552585
整理番号:11A0704778
ピリドキシン依存型癲癇(ALDH7A1欠乏)の遺伝型および表現型の範囲
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
著者 (23件):
MILLS Philippa B.
(Univ. Coll. London, London, GBR)
,
FOOTITT Emma J.
(Univ. Coll. London, London, GBR)
,
MILLS Kevin A.
(Univ. Coll. London, London, GBR)
,
TUSCHL Karin
(Univ. Coll. London, London, GBR)
,
AYLETT Sarah
(Univ. Coll. London, London, GBR)
,
VARADKAR Sophia
(Univ. Coll. London, London, GBR)
,
HEMINGWAY Cheryl
(Univ. Coll. London, London, GBR)
,
MARLOW Neil
(Univ. Coll. Hospital, London, GBR)
,
RENNIE Janet
(Univ. Coll. Hospital, London, GBR)
,
BAXTER Peter
(Sheffield Children’s National Health Serv. Foundation Trust, Sheffield, GBR)
,
DULAC Olivier
(Necker-Enfants Malades Hospital, PAris, FRA)
,
NABBOUT Rima
(Necker-Enfants Malades Hospital, PAris, FRA)
,
CRAIGEN William J.
(Baylor Coll. Medicine, TX, USA)
,
SCHMITT Bernhard
(Univ. Children’s Hospital, Zurich, CHE)
,
FEILLET Francois
(INSERM, Vandoeuvre les Nancy, FRA)
,
CHRISTENSEN Ernst
(Rigshospitalet, Copenhagen, DNK)
,
DE LONLAY Pascale
(Univ. Rene Descartes, Paris, FRA)
,
PIKE Mike G.
(Children’s Hospital, Oxford, GBR)
,
HUGHES M. Imelda
(Royal Manchester Children’s Hospital, Lancashire, GBR)
,
STRUYS Eduard A.
(VU Univ. Medical Center Amsterdam, Amsterdam, NLD)
,
JAKOBS Cornelis
(VU Univ. Medical Center Amsterdam, Amsterdam, NLD)
,
ZUBERI Sameer M.
(Royal Hospital for Sick Children, Glasgow, GBR)
,
CLAYTON Peter T.
(Univ. Coll. London, London, GBR)
資料名:
Brain
(Brain)
巻:
133
号:
7
ページ:
2148-2159
発行年:
2010年07月
JST資料番号:
C0919B
ISSN:
0006-8950
資料種別:
逐次刊行物 (A)
発行国:
イギリス (GBR)
言語:
英語 (EN)