文献
J-GLOBAL ID:201802231254524884
整理番号:18A1002303
乾燥血液スポット(DBS)および白血球による神経セロイドリポフスチン症(NCL)1および2におけるPPT1およびTPP1酵素の特性および新生児スクリーニングへの応用【JST・京大機械翻訳】
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
著者 (20件):
Itagaki Rina
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Endo Masahiro
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Yanagisawa Hiroko
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Hossain Mohammad Arif
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Akiyama Keiko
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Yaginuma Keiko
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Miyajima Takashi
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Miyajima Takashi
(Institute of Rare disease, AnGes Co., Tokyo, Japan)
,
Wu Chen
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Wu Chen
(Institute of Rare disease, AnGes Co., Tokyo, Japan)
,
Iwamoto Takeo
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Iwamoto Takeo
(Core Laboratory, Institute of Medical Science, Tokyo Jikei University School of Medicine, Tokyo, Japan)
,
Igarashi Junko
(Institute of Rare disease, AnGes Co., Tokyo, Japan)
,
Kobayashi Yu
(Department of Child Neurology, Epilepsy Center, Nishi-Niigata, Chuo National Hospital, Niigata, Japan)
,
Tohyama Jun
(Department of Child Neurology, Epilepsy Center, Nishi-Niigata, Chuo National Hospital, Niigata, Japan)
,
Iwama Kazuhiro
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan)
,
Matsumoto Naomichi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan)
,
Shintaku Haruo
(Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan)
,
Eto Yoshikatsu
(Advanced Clinical Research Center, Institute of Neurological Disorder, Kanagawa, Japan)
,
Eto Yoshikatsu
(Jikei University School of Medicine, Tokyo, Japan)
資料名:
Molecular Genetics and Metabolism
(Molecular Genetics and Metabolism)
巻:
124
号:
1
ページ:
64-70
発行年:
2018年
JST資料番号:
E0820A
ISSN:
1096-7192
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)