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内部出版物
CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Therapies of mucopolysaccharidosis type IV A (Morquio syndrome type A)
作者:
Shunji Tomatsu
;
Carlos J. Alm茅ciga-D铆az
;
Hector Barbosa
;
Adriana M. Monta帽o
;
Tadao
Orii
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
2.
Growth charts for patients with Hunter syndrome
作者:
Shunji Tomatsu
;
Pravin Patel
;
Yasuyuki Suzuki
;
Tadao
Orii
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Newborn screening and diagnosis of mucopolysaccharidoses
作者:
Shunji Tomatsu
;
Tadashi Fujii
;
Masaru Fukushi
;
Toshihiro Oguma
;
Tsutomu Shimada
;
Miho Maeda
;
Kazuhiro Kida
;
Yuniko Shibata
;
Hideyuki Futatsumori
;
Adriana M. Monta?o
;
Robert W. Mason
;
Seiji Yamaguchi
;
Yasuyuki Suzuki
;
Tadao
Orii
关键词:
CS
;
chondroitin sulfate
;
CF
;
cystic fibrosis
;
CNS
;
central nervous system
;
CPC
;
cetylpyridinium chloride
;
DBS
;
dried blood spot
;
DMB
;
dimethylmethylene blue
;
DS
;
dermatan sulfate
;
ERT
;
enzyme replacement therapy
;
ESI-MS/MS
;
electrospray ionization tandem
刊名:Molecular Genetics and Metabolism
出版年:2013
4.
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels
作者:
V? Ch¨ª D?ng
;
Shunji Tomatsu
;
Adriana M. Monta?o
;
Gary Gottesman
;
Michael B. Bober
;
William Mackenzie
;
Miho Maeda
;
Grant A. Mitchell
;
Yasuyuki Suzuki
;
Tadao
Orii
关键词:
C6S
;
Chondroitin-6-sulfate
;
CDC
;
Centers for Disease Control and Prevention
;
Cr
;
Creatinine
;
DMB
;
dimethylmethylene blue
;
DMSO
;
dimethylsulfoxide
;
GAGs
;
Glycosaminoglycans
;
GALNS
;
N-acetylgalactosamine-6-sulfate sufatase
;
IMO
;
International Morquio Organi
刊名:Molecular Genetics and Metabolism
出版年:2013
5.
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
6.
Murine model (Galns
tm(C76S)slu
) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins
作者:
Shunji Tomatsu
;
Carole Vogler
;
Adriana M. Montañ
o ;
Monica Gutierrez
;
Hirotaka Oikawa
;
Vu Chi Dung
;
Tadao
Orii
;
Akihiko Noguchi
;
William S. Sly
关键词:
GALNS
;
Mucopolysaccharidosis IVA
;
Active site
;
Targeted mutagenesis
;
Sulfatase
刊名:Molecular Genetics and Metabolism
出版年:2007
7.
Evaluation of ADL in patients with Hunter disease using FIM score
作者:
Tomomi Kato
;
Zenichiro Kato
;
Izumi Kuratsubo
;
Tetsuo Ota
;
Tadao
Orii
;
Naomi Kondo
;
Yasuyuki Suzuki
关键词:
Mucopolysaccharidosis type II
;
Hunter disease
;
Activities of daily life
;
ADL
;
Functional independent measure
;
FIM
刊名:Brain and Development
出版年:2007
8.
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
作者:
Shunji Tomatsu
;
Adriana M. Montañ
o ;
Patricia Lopez
;
Georgeta Trandafirescu
;
Monica A. Gutierrez
;
Hirotaka Oikawa
;
Tatsuo Nishioka
;
Matheus B. Vieira
;
Tadao
Orii
and Akihiko Noguchi
刊名:Molecular Genetics and Metabolism
出版年:2006
9.
Defining the Pathway for Tat-mediated Delivery of β-Glucuronidase in Cultured Cells and MPS VII Mice
作者:
Koji O.
Orii
;
Jeffrey H. Grubb
;
Carole Vogler
;
Beth Levy
;
Yun Tan
;
Kamelia Markova
;
Beverly L. Davidson
;
Q. Mao
;
Tadao
Orii
;
Naomi Kondo and William S. Sly
刊名:Molecular Therapy
出版年:2005
10.
Epileptic seizures and structural abnormalities in a patient with holoprosencephaly
作者:
Takahashi
;
Sayumi
;
Takahashi
;
Yukitoshi
;
Kondo
;
Naomi
;
Orii
;
Tadao
关键词:
Holoprosencephaly
;
Arhinencephaly
;
EEG
;
Secondary generalized tonic&ndash
;
clonic convulsion
;
Partial seizures
;
Epileptic spasms
刊名:Brain and Development
出版年:2001
1
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2005年(1)
2001年(1)
2000年及以前(7)
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