Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

by Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
Published 2017-12-01

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

by Ryuichi Mashima, Eri Sakai, Misa Tanaka, Motomichi Kosuga, Torayuki Okuyama
Published 2016-06-01

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course

by Joo-Hyun Seo, Torayuki Okuyama, Elsa Shapiro, Yasuyuki Fukuhara, Motomichi Kosuga
Published 2020-09-01

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II

by Joo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki, Haruo Shintaku, Torayuki Okuyama
Published 2021-06-01

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

by Ryuichi Mashima, Misa Tanaka, Eri Sakai, Hidenori Nakajima, Tadayuki Kumagai, Motomichi Kosuga, Torayuki Okuyama
Published 2016-06-01

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

by Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Published 2018-03-01

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

by Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama
Published 2020-12-01

Strong, Long-Term Transgene Expression in Rat Liver Using Chicken β-Actin Promoter Associated with Cytomegalovirus Immediate-Early Enhancer (CAG Promoter)

by Motomichi Kosuga, Shin Enosawa, Xiao-Kang Li, Seiichi Suzuki, Nobutake Matsuo, Masao Yamada, Jayanta Roy-Chowdhury, Osamu Koiwai, Torayuki Okuyama
Published 2000-09-01

Widespread Distribution of Adenovirus-Transduced Monkey Amniotic Epithelial Cells after Local Intracerebral Injection: Implication for Cell-Mediated Therapy for Lysosome Storage Di...

by Motomichi Kosuga, Satoru Takahashi, Akiko Tanabe, Masayuki Fujino, Xiao-Kang Li, Seiichi Suzuki, Masao Yamada, Kohji Kakishita, Fumiko Ono, Norio Sakuragawa, Torayuki Okuyama
Published 2001-05-01

Phenotype Correction in Murine Mucopolysaccharidosis Type VII by Transplantation of Human Amniotic Epithelial Cells after Adenovirus-Mediated Gene Transfer

by Motomichi Kosuga, Satori Takahashi, Kyoko Sasaki, Shin Enosawa, Xiao-Kang Li, Sanae Okuyama, Masayuki Fujino, Seiichi Suzuki, Masao Yamada, Nobutake Matsuo, Norio Sakuragawa, Torayuki Okuyama
Published 2000-09-01