Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study von Lee, Chae Sung, Tsurumi, Mina, Eto, Yoshikatsu

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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 Urina... von Maekawa, Masamitsu, Miyoshi, Keitaro, Narita, Aya, Sato, Toshihiro, Sato, Yu, Kumondai, Masaki, Kikuchi, Masafumi, Higaki, Katsumi, Okuyama, Torayuki, Eto, Yoshikatsu, Sakamaki, Hiroshi, Mano, Nariyasu

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Water intoxication: A clue to the presence of classical Fabry disease von Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Yanagisawa, Hiroko, Eto, Yoshikatsu, Haginoya, Kazuhiro

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A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS von Wu, Chen, Iwamoto, Takeo, Hossain, Mohammad Arif, Akiyama, Keiko, Igarashi, Junko, Miyajima, Takashi, Eto, Yoshikatsu

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Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholi... von 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

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Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus von Eto, Kaoru, Itagaki, Rina, Takamura, Ayumi, Eto, Yoshikatsu, Nagata, Satoru

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Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data von 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

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A survey on the patient journey in Fabry disease in Japan von Tsurumi, Mina, Ozaki, Asuka, Eto, Yoshikatsu

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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance von 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

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Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C von 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

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Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II von Wakabayashi, Taichi, Shimada, Yohta, Akiyama, Kazumasa, Higuchi, Takashi, Fukuda, Takahiro, Kobayashi, Hiroshi, Eto, Yoshikatsu, Ida, Hiroyuki, Ohashi, Toya

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Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C von Maekawa, Masamitsu, Jinnoh, Isamu, Matsumoto, Yotaro, Narita, Aya, Mashima, Ryuichi, Takahashi, Hidenori, Iwahori, Anna, Saigusa, Daisuke, Fujii, Kumiko, Abe, Ai, Higaki, Katsumi, Yamauchi, Shosei, Ozeki, Yuji, Shimoda, Kazutaka, Tomioka, Yoshihisa, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, T Clayton, Peter, Yamaguchi, Hiroaki, Mano, Nariyasu

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Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C von Maekawa, Masamitsu, Narita, Aya, Jinnoh, Isamu, Iida, Takashi, Marquardt, Thorsten, Mengel, Eugen, Eto, Yoshikatsu, Clayton, Peter T., Yamaguchi, Hiroaki, Mano, Nariyasu

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Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients von Nojiri, Ayumi, Anan, Ikuko, Morimoto, Satoshi, Kawai, Makoto, Sakuma, Toru, Kobayashi, Masahisa, Kobayashi, Hiroshi, Ida, Hiroyuki, Ohashi, Toya, Eto, Yoshikatsu, Shibata, Takahiro, Yoshimura, Michihiro, Hongo, Kenichi

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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood von Ohba, Chihiro, Osaka, Hitoshi, Iai, Mizue, Yamashita, Sumimasa, Suzuki, Yume, Aida, Noriko, Shimozawa, Nobuyuki, Takamura, Ayumi, Doi, Hiroshi, Tomita-Katsumoto, Atsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Eto, Yoshikatsu, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance von 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

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L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease von Yanagisawa, Hiroko, Ishii, Tomohiro, Endo, Kentaro, Kawakami, Emiko, Nagao, Kazuaki, Miyashita, Toshiyuki, Akiyama, Keiko, Watabe, Kazuhiko, Komatsu, Masaaki, Yamamoto, Daisuke, Eto, Yoshikatsu

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Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST) von Saito, Osamu, Kusano, Eiji, Akimoto, Tetsu, Asano, Yasushi, Kitagawa, Teruo, Suzuki, Ken, Ishige, Nobuyuki, Akiba, Takashi, Saito, Akira, Ishimura, Eiji, Hattori, Motoshi, Hishida, Akira, Guili, Chu, Maruyama, Hiroki, Kobayashi, Masahisa, Ohashi, Touya, Matsuda, Ichiro, Eto, Yoshikatsu

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A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis von Kumagai, Tadayuki, Terashima, Hiroshi, Uchida, Hajime, Fukuda, Akinari, Kasahara, Mureo, Kosuga, Motomichi, Okuyama, Torayuki, Tsunoda, Tomoyuki, Inui, Ayano, Fujisawa, Tomoo, Narita, Aya, Eto, Yoshikatsu, Kubota, Masaya

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The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients von Hongo, Kenichi, Ito, Keiichi, Date, Taro, Anan, Ikuko, Inoue, Yasunori, Morimoto, Satoshi, Ogawa, Kazuo, Kawai, Makoto, Kobayashi, Hiroshi, Kobayashi, Masahisa, Ida, Hiroyuki, Ohashi, Toya, Taniguchi, Ikuo, Yoshimura, Michihiro, Eto, Yoshikatsu

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