Zobrazeno 1 - 10
of 352
pro vyhledávání: '"Yoshikatsu Eto"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Agalsidase beta, an enzyme replacement therapy for Fabry disease, is dosed biweekly at 1 mg/kg body weight, with increasing infusion rates based on tolerability. The US label specifies ≥ 90-min infusions for all patients; the US
Externí odkaz:
https://doaj.org/article/4f0a11b94cf64803a871e6784f2bc6f1
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101019- (2023)
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment. Ne
Externí odkaz:
https://doaj.org/article/f2ab642ae0ed4edf9000bdf25e7d8674
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100909- (2022)
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency in α-galactosidase that is frequently diagnosed late after disease onset. While previous studies have focused on the multisystem manifestations that c
Externí odkaz:
https://doaj.org/article/8fb1e1c6178e442689e45ce2d4e5008c
Autor:
Mohammad Arif Hossain, Minami Hasegawa-Ogawa, Yoko Manome, Miki Igarashi, Chen Wu, Ken Suzuki, Junko Igarashi, Takeo Iwamoto, Hirotaka James Okano, Yoshikatsu Eto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100852- (2022)
The pathological consequences leading to primary storage, autophagy impairment, impaired mitochondrial dynamics, and endoplasmic reticulum (ER) stress on neural cell dysfunction and apoptosis in metachromatic leukodystrophy (MLD) have been poorly elu
Externí odkaz:
https://doaj.org/article/4a2ea01574d24915844cc36e6f6c0698
Autor:
Ikuko Anan, Toru Sakuma, Eiko Fukuro, Satoshi Morimoto, Ayumi Nojiri, Makoto Kawai, Ken Sakurai, Masahisa Kobayashi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Michihiro Yoshimura, Yoshikatsu Eto, Kenichi Hongo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100858- (2022)
Aims: T1 mapping in cardiac magnetic resonance imaging enables us to distinguish various myocardial diseases showing left ventricular hypertrophy. Fabry disease is a lysosomal storage disorder causing the accumulation of glycosphingolipids into vario
Externí odkaz:
https://doaj.org/article/123629e70f1948b28f4633d9f2a25793
Autor:
Masamitsu Maekawa, Isamu Jinnoh, Aya Narita, Takashi Iida, Daisuke Saigusa, Anna Iwahori, Hiroshi Nittono, Torayuki Okuyama, Yoshikatsu Eto, Kousaku Ohno, Peter T. Clayton, Hiroaki Yamaguchi, Nariyasu Mano
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 12, Pp 2074-2081 (2019)
Niemann-Pick disease type C (NPC) is an autosomal recessive disorder characterized by progressive nervous degeneration. Because of the diversity of clinical symptoms and onset age, the diagnosis of this disease is difficult. Therefore, biomarker test
Externí odkaz:
https://doaj.org/article/3811ce45480e4dc0876b5ae498134eca
Autor:
Ryo Saito, Takashi Miyajima, Takeo Iwamoto, Chen Wu, Ken Suzuki, Mohammad Arif Hossain, Miyo Munakata, Takumi Era, Yoshikatsu Eto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100784- (2021)
Niemann−Pick disease type C (NPC) is a rare neurodegenerative disorder caused by a recessive mutation in the NPC1 or NPC2 gene, in which patients exhibit lysosomal accumulation of unesterified cholesterol and glycolipids. Most of the research on NP
Externí odkaz:
https://doaj.org/article/3fc4a155d934442ca269ca6449667fcf
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation o
Externí odkaz:
https://doaj.org/article/07788539a8b74b2fa1444bee0867e560
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressi
Externí odkaz:
https://doaj.org/article/4b4cdd98c75840e4a9c116d9983d5417
Autor:
Satoshi Morimoto, Ayumi Nojiri, Eiko Fukuro, Ikuko Anan, Makoto Kawai, Ken Sakurai, Masahisa Kobayashi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Takahiro Shibata, Michihiro Yoshimura, Yoshikatsu Eto, Kenichi Hongo
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 7 (2021)
Objective: An electrocardiogram (ECG) is an important tool for demonstrating cardiac manifestations in various heart diseases. The present study clarified the characteristics of ECG parameters in Japanese Fabry patients under long-term enzyme replace
Externí odkaz:
https://doaj.org/article/da0c6b32638244dbab3db5b7fe5d67f6