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内部出版物
CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
20
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Enzyme activities of six lysosomal diseases in a Japanese neonatal population
作者:
Ryuichi Mashima
;
Eri Sakai
;
Motomichi Kosuga
;
Torayuki
Okuyama
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Rapid detection system of glycosaminoglycans with small amount of urine samples for high-risk screening of mucopolysaccharidoses
作者:
Ryuichi Mashima
;
Motomichi Kosuga
;
Eri Sakai
;
Misa Tanaka
;
Torayuki
Okuyama
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Phenotype-genotype correlation in Japanese patients with mucopolysaccharidosis type ΙΙ
作者:
Torayuki
Okuyama
;
Motomichi Kosuga
;
Asami Hirakiyama
;
Ryuichi Mashima
刊名:Molecular Genetics and Metabolism
出版年:2016
4.
The role of lipoxygenases in pathophysiology; new insights and future perspectives
作者:
Ryuichi Mashima
;
mashima-r@ncchd.go.jp" class="auth_mail" title="E-mail the corresponding author
;
Torayuki
Okuyama
关键词:
Lipoxygenase
;
Phenotype
;
Signal transduction
;
Resolvins
刊名:Redox Biology
出版年:2015
5.
Efficacy of hematopoietic stem cell transplantation versus enzyme replacement therapy on brain function in patients with mucopolysaccharidosis type II
作者:
Akemi Tanaka
;
Takashi Hamazaki
;
Torayuki
Okuyama
;
Yasuyuki Suzuki
;
Norio Sakai
;
Motomichi Kosuga
;
Michiko Shinpo
;
Hiromasa Yabe
;
Mika Ishige
;
Hideo Mugishima
;
Ken Tabuchi
;
Shunichi Kato
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
6.
Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
作者:
Akiharu Kubo
;
Aiko Shiohama
;
Takashi Sasaki
;
Kazuhiko Nakabayashi
;
Hiroshi Kawasaki
;
Toru Atsugi
;
Showbu Sato
;
Atsushi Shimizu
;
Shuji Mikami
;
Hideaki Tanizaki
;
Masaki Uchiyama
;
Tatsuo Maeda
;
Taisuke Ito
;
Jun-ichi Sakabe
;
Toshio Heike
;
Torayuki
Okuyama
;
Rika Kosaki
;
Kenjiro Kosaki
;
Jun Kudoh
;
Kenichiro Hata
;
et al.
刊名:The American Journal of Human Genetics
出版年:7 November, 2013
7.
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis
作者:
Takashi Sasaki
;
Hironori Niizeki
;
Atsushi Shimizu
;
Aiko Shiohama
;
Asami Hirakiyama
;
Torayuki
Okuyama
;
Atsuhito Seki
;
Kenji Kabashima
;
Atsushi Otsuka
;
Akira Ishiko
;
Keiji Tanese
;
Shun-ichi Miyakawa
;
Jun-ichi Sakabe
;
Masamitsu Kuwahara
;
Masayuki Amagai
;
Hideyuki Okano
;
Makoto Suematsu
;
Jun Kudoh
关键词:
PDP
;
Whole exome sequencing
;
Mutation analysis
;
SLCO2A1
;
Prostaglandin transporter
刊名:Journal of Dermatological Science
出版年:2012
8.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
作者:
Wuh-Liang Hwu
;
Torayuki
Okuyama
;
Wai Man But
;
Sylvia Estrada
;
Xuefan Gu
;
Joannie Hui
;
Motomichi Kosuga
;
Shuan-Pei Lin
;
Lock-Hock Ngu
;
Huiping Shi
;
Akemi Tanaka
;
Meow-Keong Thong
;
Duangrurdee Wattanasirichaigoon
;
Pornswan Wasant
;
Jim McGill
关键词:
ARSB
;
arylsulfatase B gene
;
ASB
;
arylsulfatase B
;
BMT
;
bone marrow transplantation
;
DBS
;
dry blood spot
;
dx
;
diagnosis
;
ERT
;
enzyme replacement therapy
;
GAG
;
glycosaminoglycan
;
HSCT
;
hematopoietic stem cell transplantation
;
LSDP
;
Life Saving Drugs Program
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
Japan Elaprase
®
Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)
作者:
Torayuki
Okuyama
;
Akemi Tanaka
;
Yasuyuki Suzuki
;
Hiroyuki Ida
;
Toju Tanaka
;
Gerald F. Cox
;
Yoshikatsu Eto
;
Tadao Orii
关键词:
Mucopolysaccharidosis II
;
Hunter syndrome
;
Clinical trial
;
Enzyme replacement therapy
;
Idursulfase
;
Elaprase
刊名:Molecular Genetics and Metabolism
出版年:2010
10.
High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
作者:
Shingo Kumamoto
;
Tatsuya Katafuchi
;
Kimitoshi Nakamura
;
Fumio Endo
;
Eri Oda
;
Torayuki
Okuyama
;
Marian A. Kroos
;
Arnold J.J. Reuser
;
Toshika Okumiya
关键词:
Glycogen storage disease type II
;
Pompe disease
;
Acid maltase
;
Acid α
;
-glucosidase
;
Dried blood spot
;
Newborn screening
;
Genetic polymorphism
刊名:Molecular Genetics and Metabolism
出版年:2009
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