Zobrazeno 1 - 10
of 225
pro vyhledávání: '"Torayuki, Okuyama"'
Autor:
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101021- (2023)
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorder
Externí odkaz:
https://doaj.org/article/eb24e9ce4dae491295f89c82b84acf30
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body. Major manifestations involve the central nerve system (CNS), skelet
Externí odkaz:
https://doaj.org/article/89af4d5bd2e649eeb96d5d0a32f25537
Autor:
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in
Externí odkaz:
https://doaj.org/article/afa5b489798645e088b9cf73ab60d398
Autor:
Hidetaka Uryu, Ohsuke Migita, Minami Ozawa, Chikako Kamijo, Saki Aoto, Kohji Okamura, Fuyuki Hasegawa, Torayuki Okuyama, Motomichi Kosuga, Kenichiro Hata
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100921- (2022)
Fabry disease is a congenital lysosomal storage disease, and most of these cases develop organ damage in middle age. There are some promising therapeutic options for this disorder, which can stabilize the progression of the disease. However, a long d
Externí odkaz:
https://doaj.org/article/4b495fea4fb14888adde95bf19734d62
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100913- (2022)
Lysosomal acid lipase deficiency (LAL-D) (OMIM: 278000) is a lysosomal storage disorder with two distinct disease phenotypes such as Wolman disease and cholesteryl ester storage disorder (CESD), characterized by an accumulation of endocytosed cholest
Externí odkaz:
https://doaj.org/article/2e53a7a208b24e4eb9a1fbc4832fc271
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 67-75 (2021)
This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results. Six patients with sev
Externí odkaz:
https://doaj.org/article/c5734ea34e0c4576912bacda84046c5b
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:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss , Pp 9-15 (2018)
Astract: Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycolipids, oligosaccharides, mucopolysaccharides, and other biological substances because of the pathogenic deficiency of lysosomal enzymes. Such diseases
Externí odkaz:
https://doaj.org/article/1c1594f660404c98a3f5297112559ebe