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Frontiers in Cardiovascular Medicine|February 1, 2021
Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement TherapySatoshi Morimoto, Ayumi Nojiri, Eiko Fukuro, et al.
Molecular Genetics and Metabolism|October 5, 2020
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT studyUlla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, et al.
Molecular Genetics and Metabolism|June 28, 2011
Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cellsShiho Kawagoe, Takashi Higuchi, Xing-Li Meng, et al.
Molecular Genetics and Metabolism|May 12, 2018
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patientsKenichi Hongo, Keiichi Ito, Taro Date, et al.
The Journal of Clinical Investigation|April 8, 2025
AAV expression of a blood-brain barrier-penetrating form of β-galactosidase normalises GM1 ganglioside storage in miceSaki Kondo Matsushima, Yohta Shimada, Masafumi Kinoshita, et al.
American Journal of Human Genetics|October 27, 2009
Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry diseaseYouichi Tajima, Ikuo Kawashima, Takahiro Tsukimura, et al.
Pediatric Transplantation|January 26, 2016
Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell TransplantationShunichi Kato, Hiromasa Yabe, Hiromitsu Takakura, et al.
Molecular Genetics and Metabolism|March 6, 2010
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy caseHiroshi Kobayashi, Yohta Shimada, Masahiro Ikegami, et al.
Cancer Science|August 30, 2021
Inhibition of acid ceramidase elicits mitochondrial dysfunction and oxidative stress in pancreatic cancer cellsTomohiko Taniai, Yoshihiro Shirai, Yohta Shimada, et al.
Molecular Genetics and Metabolism|October 2, 2012
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in JapanAkemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki, et al.
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