The role of lipoxygenases in pathophysiology; new insights and future perspectives

Por Mashima, Ryuichi, Okuyama, Torayuki
Publicado no Redox Biol (2015)

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

Por Mashima, Ryuichi, Sakai, Eri, Kosuga, Motomichi, Okuyama, Torayuki
Publicado no Mol Genet Metab Rep (2016)

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases

Por Saito, Seiji, Ohno, Kazuki, Okuyama, Torayuki, Sakuraba, Hitoshi
Publicado no PLoS One (2016)

The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry

Por Mashima, Ryuichi, Sakai, Eri, Tanaka, Misa, Kosuga, Motomichi, Okuyama, Torayuki
Publicado no Mol Genet Metab Rep (2016)

Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-Å resolution

Por Stams, Travis, Nair, Satish K., Okuyama, Torayuki, Waheed, Abdul, Sly, William S., Christianson, David W.
Publicado em 1996

The natural history of MPS I: global perspectives from the MPS I Registry

Por Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari
Publicado em 2014

A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

Por Mashima, Ryuichi, Tanaka, Misa, Sakai, Eri, Nakajima, Hidenori, Kumagai, Tadayuki, Kosuga, Motomichi, Okuyama, Torayuki
Publicado no Mol Genet Metab Rep (2016)

Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation

Por Mutai, Hideki, Kouike, Hiroko, Teruya, Eiko, Takahashi-Kodomari, Ikuko, Kakishima, Hiroki, Taiji, Hidenobu, Usami, Shin-ichi, Okuyama, Torayuki, Matsunaga, Tatsuo
Publicado em 2011

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

Por D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige
Publicado em 2012

Stat3 protects against Fas-induced liver injury by redox-dependent and -independent mechanisms

Por Haga, Sanae, Terui, Keita, Zhang, Hui Qi, Enosawa, Shin, Ogawa, Wataru, Inoue, Hiroshi, Okuyama, Torayuki, Takeda, Kiyoshi, Akira, Shizuo, Ogino, Tetsuya, Irani, Kaikobad, Ozaki, Michitaka
Publicado em 2003

BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay

Por Tatsuno, Michiko, Shioda, Yoko, Iwafuchi, Hideto, Yamazaki, Shigeki, Iijima, Kenta, Takahashi, Chiaki, Ono, Hiromi, Uchida, Kiyono, Okamura, Osamu, Matubayashi, Mamoru, Okuyama, Torayuki, Matsumoto, Kimikazu, Yoshioka, Takako, Nakazawa, Atsuko
Publicado no Diagn Pathol (2016)

Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state

Por Matsuoka, Takashi, Miwa, Yoshiyuki, Tajika, Makiko, Sawada, Madoka, Fujimaki, Koichiro, Soga, Takashi, Tomita, Hideshi, Uemura, Shigeru, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Kosuga, Motomichi, Okuyama, Torayuki, Umeda, Yoh
Publicado no Mol Genet Metab Rep (2016)

Pathological characterization of pachydermia in pachydermoperiostosis

Por Tanese, Keiji, Niizeki, Hironori, Seki, Atsuhito, Otsuka, Atsushi, Kabashima, Kenji, Kosaki, Keisuke, Kuwahara, Masamitsu, Miyakawa, Shun‐ichi, Miyasaka, Mikiko, Matsuoka, Kentaro, Okuyama, Torayuki, Shiohama, Aiko, Sasaki, Takashi, Kudoh, Jun, Amagai, Masayuki, Ishiko, Akira
Publicado no J Dermatol (2015)

Overcoming the barriers to diagnosis of Morquio A syndrome

Por Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei
Publicado no Orphanet J Rare Dis (2014)

Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

Por Kubo, Akiharu, Shiohama, Aiko, Sasaki, Takashi, Nakabayashi, Kazuhiko, Kawasaki, Hiroshi, Atsugi, Toru, Sato, Showbu, Shimizu, Atsushi, Mikami, Shuji, Tanizaki, Hideaki, Uchiyama, Masaki, Maeda, Tatsuo, Ito, Taisuke, Sakabe, Jun-ichi, Heike, Toshio, Okuyama, Torayuki, Kosaki, Rika, Kosaki, Kenjiro, Kudoh, Jun, Hata, Kenichiro, Umezawa, Akihiro, Tokura, Yoshiki, Ishiko, Akira, Niizeki, Hironori, Kabashima, Kenji, Mitsuhashi, Yoshihiko, Amagai, Masayuki
Publicado em 2013