The natural history of MPS I: global perspectives from the MPS I Registry
Beck, Michael, Arn, Pamela, Giugliani, Roberto, Muenzer, Joseph, Okuyama, Torayuki, Taylor, John, Fallet, Shari
Published in Genetics in medicine (01.10.2014)
Published in Genetics in medicine (01.10.2014)
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Journal Article
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Mashima, Ryuichi, Ohira, Mari, Okuyama, Torayuki, Onodera, Masafumi, Takada, Shuji
Published in Scientific reports (15.05.2023)
Published in Scientific reports (15.05.2023)
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Journal Article
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry
Mashima, Ryuichi, Okuyama, Torayuki, Ohira, Mari
Published in International journal of molecular sciences (14.04.2020)
Published in International journal of molecular sciences (14.04.2020)
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Journal Article
Development of a Highly Sensitive and Rapid Liquid Chromatography–Tandem Mass Spectrometric Method Using a Basic Mobile Phase Additive to Determine the Characteristics of the Urinary Metabolites for Niemann–Pick Disease Type C
Maekawa, Masamitsu, Miyoshi, Keitaro, Narita, Aya, Sato, Toshihiro, Sato, Yu, Kumondai, Masaki, Kikuchi, Masafumi, Higaki, Katsumi, Okuyama, Torayuki, Eto, Yoshikatsu, Sakamaki, Hiroshi, Mano, Nariyasu
Published in Biological & pharmaceutical bulletin (01.09.2022)
Published in Biological & pharmaceutical bulletin (01.09.2022)
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Journal Article
Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine
Iwahori, Anna, Maekawa, Masamitsu, Narita, Aya, Kato, Akie, Sato, Toshihiro, Ogura, Jiro, Sato, Yu, Kikuchi, Masafumi, Noguchi, Atsuko, Higaki, Katsumi, Okuyama, Torayuki, Takahashi, Tsutomu, Eto, Yoshikatsu, Mano, Nariyasu
Published in Biological & pharmaceutical bulletin (01.09.2020)
Published in Biological & pharmaceutical bulletin (01.09.2020)
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Journal Article
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
Giugliani, Roberto, Martins, Ana Maria, Okuyama, Torayuki, Eto, Yoshikatsu, Sakai, Norio, Nakamura, Kimitoshi, Morimoto, Hideto, Minami, Kohtaro, Yamamoto, Tatsuyoshi, Yamaoka, Mariko, Ikeda, Toshiaki, So, Sairei, Tanizawa, Kazunori, Sonoda, Hiroyuki, Schmidt, Mathias, Sato, Yuji
Published in International journal of molecular sciences (10.10.2021)
Published in International journal of molecular sciences (10.10.2021)
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Journal Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Clarke, Lorne A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Keenan, Hillary A., Munoz‐Rojas, Maria V., Okuyama, Torayuki, Viskochil, David, Whitley, Chester B., Wijburg, Frits A., Muenzer, Joseph
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Journal Article
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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Journal Article
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C
Maekawa, Masamitsu, Jinnoh, Isamu, Narita, Aya, Iida, Takashi, Saigusa, Daisuke, Iwahori, Anna, Nittono, Hiroshi, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, Clayton, Peter T., Yamaguchi, Hiroaki, Mano, Nariyasu
Published in Journal of lipid research (01.12.2019)
Published in Journal of lipid research (01.12.2019)
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Journal Article
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots
Ohira, Mari, Barr, Marianne, Okuyama, Torayuki, Mashima, Ryuichi
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings
Tajima, Go, Sakura, Nobuo, Kosuga, Motomichi, Okuyama, Torayuki, Kobayashi, Masao
Published in Molecular genetics and metabolism (01.03.2013)
Published in Molecular genetics and metabolism (01.03.2013)
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Journal Article
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II
Seo, Joo-Hyun, Kosuga, Motomichi, Hamazaki, Takashi, Shintaku, Haruo, Okuyama, Torayuki
Published in Molecular therapy. Methods & clinical development (11.06.2021)
Published in Molecular therapy. Methods & clinical development (11.06.2021)
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Journal Article
Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
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
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
Seo, Joo-Hyun, Okuyama, Torayuki, Shapiro, Elsa, Fukuhara, Yasuyuki, Kosuga, Motomichi
Published in Molecular genetics and metabolism reports (01.09.2020)
Published in Molecular genetics and metabolism reports (01.09.2020)
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