Zobrazeno 1 - 10
of 537
pro vyhledávání: '"Tadao Orii"'
Autor:
Molly Stapleton, Francyne Kubaski, Robert W. Mason, Haruo Shintaku, Hironori Kobayashi, Seiji Yamaguchi, Takeshi Taketani, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders which can lead to degenerative and irreversible skeletal, cardiovascular, pulmonary, and neurological damage. Current treatments, including hematopoietic stem cell transplantatio
Externí odkaz:
https://doaj.org/article/b40847e2cc744d6497014a2d4ca0d659
Autor:
Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarker
Externí odkaz:
https://doaj.org/article/fc0f3739c01f423088fd3ce2fc476505
Publikováno v:
Diagnostics, Vol 10, Iss 2, p 105 (2020)
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al. reported th
Externí odkaz:
https://doaj.org/article/954d069019164221be2c6123eee237f7
Publikováno v:
Diagnostics, Vol 10, Iss 1, p 46 (2020)
The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact. This study aims to evaluate th
Externí odkaz:
https://doaj.org/article/12bf9abb51bd4381adacc78eabbbf22b
Autor:
Eriko Yasuda, William G. Mackenzie, Kristen D. Ruhnke, Tsutomu Shimada, Robert W. Mason, Jozef Zustin, Paul L. Martin, Mihir M. Thacker, Tadao Orii, Yoshimichi Sai, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 65-76 (2015)
Mucopolysaccharidosis type I (MPS I; Hurler syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme α-l-iduronidase which affects multiple organs such as central nervous system (CNS), skeletal system, and physical appearance. H
Externí odkaz:
https://doaj.org/article/2a1f156ea54d489d90aa03bd2cbb9f7d
Autor:
Shunji Tomatsu, Tsutomu Shimada, Robert W. Mason, Adriana M. Montaño, Joan Kelly, William A. LaMarr, Francyne Kubaski, Roberto Giugliani, Aratrik Guha, Eriko Yasuda, William Mackenzie, Seiji Yamaguchi, Yasuyuki Suzuki, Tadao Orii
Publikováno v:
Metabolites, Vol 4, Iss 3, Pp 655-679 (2014)
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficiency of the lysosomal enzymes essential for catabolism of glycosaminoglycans (GAGs). Accumulation of undegraded GAGs results in dysfunction of multiple organs, res
Externí odkaz:
https://doaj.org/article/f1c6d7024dc24975b8e510fd50856ea4
Autor:
Pravin Patel, Yasuyuki Suzuki, Miho Maeda, Eriko Yasuda, Tsutomu Shimada, Kenji E. Orii, Tadao Orii, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of
Externí odkaz:
https://doaj.org/article/5395f36b66654c97898945902b2a99cb
Autor:
Pravin Patel, Yasuyuki Suzuki, Akemi Tanaka, Hiromasa Yabe, Shunichi Kato, Tsutomu Shimada, Robert W. Mason, Kenji E. Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 184-196 (2014)
Patients with Hunter syndrome (mucopolysaccharidosis II) present with skeletal dysplasia including short stature as well as CNS and visceral organ involvement. A previous study on Hunter syndrome indicated an impact on brain and heart involvement aft
Externí odkaz:
https://doaj.org/article/7d916b6eaded44bb923773e2df8db8cd
Autor:
Yasutsugu Chinen, Takeshi Higa, Shunji Tomatsu, Yasuyuki Suzuki, Tadao Orii, Nobuyuki Hyakuna
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 31-41 (2014)
Mucopolysaccharidosis IVA (MPS IVA) is one of the lysosomal storage diseases. It is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of the specific glycosaminoglycans keratan sulf
Externí odkaz:
https://doaj.org/article/c47ca6202e7e4d3eb799389e5208abbe
Autor:
Toshiyuki Fukao, Tadao Orii, Nivethitha Arunkumar, Kenji E. Orii, Robert W. Mason, Hironori Kobayashi, Yasuyuki Suzuki, Thomas J. Langan, Seiji Yamaguchi, Molly Stapleton, Rajendra Singh, Francyne Kubaski, Shunji Tomatsu
Publikováno v:
Journal of Human Genetics. 65:557-567
Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::deb3ad71f739d825a43b9f0723fa93d2
https://doi.org/10.1038/s10038-020-0744-8
https://doi.org/10.1038/s10038-020-0744-8