Canlyniadau Chwilio - Torayuki Okuyama
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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan gan Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Cyhoeddwyd 2017Artigo -
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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum gan David F. Kronn, Debra Day‐Salvatore, Wuh‐Liang Hwu, Simon Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani
Cyhoeddwyd 2017Artigo -
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Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial gan Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kohtaro Minami, Tatsuyoshi Yamamoto, Hiroyuki Sonoda, Mariko Yamaoka, Katsuhiko Tachibana, Tohru Hirato, Yuji Sato
Cyhoeddwyd 2018Artigo -
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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry gan Kristin D׳Aco, Lisa H. Underhill, Lakshmi Rangachari, Pamela Arn, Gerald F. Cox, Roberto Giugliani, Torayuki Okuyama, Frits A. Wijburg, Paige Kaplan
Cyhoeddwyd 2012Artigo -
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A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II gan Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Cyhoeddwyd 2020Artigo -
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Stat3 protects against Fas-induced liver injury by redox-dependent and -independent mechanisms gan Sanae Haga, Keita Terui, Hui Qi Zhang, Shin Enosawa, Wataru Ogawa, Hiroshi Inoue, Torayuki Okuyama, Kiyoshi Takeda, Shizuo Akira, Tetsuya Ogino, Kaikobad Irani, Michitaka Ozaki
Cyhoeddwyd 2003Artigo -
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Stat3 protects against Fas-induced liver injury by redox-dependent and -independent mechanisms gan Sanae Haga, Keita Terui, Hui Qi Zhang, Shin Enosawa, Wataru Ogawa, Hiroshi Inoue, Torayuki Okuyama, Kiyoshi Takeda, Shizuo Akira, Tetsuya Ogino, Kaikobad Irani, Michitaka Ozaki
Cyhoeddwyd 2003Artigo -
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Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation gan Takanobu Otomo, Takeshi Muramatsu, Tohru Yorifuji, Torayuki Okuyama, Hiroki Nakabayashi, Toshiyuki Fukao, Toshihiro Ohura, Makoto Yoshino, Akemi Tanaka, Nobuhiko Okamoto, Koji Inui, Keiichi Ozono, Norio Sakai
Cyhoeddwyd 2009Artigo -
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Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases* gan Koji Muroya, Torayuki Okuyama, Keiji Goishi, Yoshifumi Ogiso, Shin Fukuda, Junji Kameyama, Hirokazu Sato, Yoshimi Suzuki, Hiroshi Terasaki, Hiroki Gomyo, Keiko Wakui, Yoshimitsu Fukushima, Tsutomu Ogata
Cyhoeddwyd 2000Artigo -
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Protein-Tyrosine Phosphatase, Nonreceptor Type 11 Mutation Analysis and Clinical Assessment in 45 Patients with Noonan Syndrome gan Rie Yoshida, Tomonobu Hasegawa, Yukihiro Hasegawa, Toshiro Nagai, Eiichi Kinoshita, Yoko Tanaka, Hirokazu Kanegane, Kenji Ohyama, Toshikazu Onishi, Kunihiko Hanew, Torayuki Okuyama, Reiko Horikawa, Toshiaki Tanaka, Tsutomu Ogata
Cyhoeddwyd 2004Artigo -
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Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry gan Lorne A. Clarke, Roberto Giugliani, Nathalie Guffon, Simon Jones, Hillary A. Keenan, María Verónica Muñoz‐Rojas, Torayuki Okuyama, David Viskochil, Chester B. Whitley, Frits A. Wijburg, Joseph Muenzer
Cyhoeddwyd 2019Artigo -
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Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients gan Maki Fukami, Reiko Horikawa, Toshiro Nagai, Toshiaki Tanaka, Yasuhiro Naiki, Naoko Sato, Torayuki Okuyama, Hideo Nakai, Shun Soneda, Katsuhiko Tachibana, Nobutake Matsuo, Seiji Sato, Keiko Homma, Gen Nishimura, Tomonobu Hasegawa, Tsutomu Ogata
Cyhoeddwyd 2005Artigo -
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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: an Integrated Analysis of Preclinical and Clinical Data gan Roberto Giugliani, Ana Maria Martins, Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Hideto Morimoto, Kohtaro Minami, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Mathias Schmidt, Yuji Sato
Cyhoeddwyd 2021Pré-impressão -
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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data gan Roberto Giugliani, Ana Maria Martins, Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai, Kimitoshi Nakamura, Hideto Morimoto, Kohtaro Minami, Tatsuyoshi Yamamoto, Mariko Yamaoka, Toshiaki Ikeda, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Mathias Schmidt, Yuji Sato
Cyhoeddwyd 2021Artigo -
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Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis gan Akiharu Kubo, Aiko Shiohama, Takashi Sasaki, Kazuhiko Nakabayashi, Hiroshi Kawasaki, Toru Atsugi, Showbu Sato, Atsushi Shimizu, Shuji Mikami, Hideaki Tanizaki, M Uchiyama, Tatsuo Maeda, Taisuke Ito, Jun‐ichi Sakabe, Toshio Heike, Torayuki Okuyama, Rika Kosaki, Kenjiro Kosaki, Jun Kudoh, Kenichiro Hata, Akihiro Umezawa, Y. Tokura, Akira Ishiko, Hironori Niizeki, Kenji Kabashima, Yoshihiko Mitsuhashi, Masayuki Amagai
Cyhoeddwyd 2013Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Medicine
Gene
Internal medicine
Disease
Enzyme replacement therapy
Biochemistry
Genetics
Pharmacology
Chemistry
Enzyme
Hurler syndrome
Mutation
Compound heterozygosity
Missense mutation
Molecular biology
Mucopolysaccharidosis
Pathology
Adverse effect
Cell biology
Endocrinology
Exon
Gastroenterology
Hunter syndrome
Mucopolysaccharidosis I
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Newborn screening
Pediatrics
Phenotype