Zobrazeno 1 - 10
of 512
pro vyhledávání: '"Fumio Endo"'
Publikováno v:
Journal of Asian Ceramic Societies, Vol 11, Iss 2, Pp 225-231 (2023)
ABSTRACTFully dense Al2TiO5–Al2O3–TiN (ATN) composites were fabricated by reactive sintering using spark plasma sintering at 1400°C for 5 min under 100 MPa in vacuum. An equimolar ratio of Al2O3:TiO2 was used as the starting powder, while the ad
Externí odkaz:
https://doaj.org/article/400b9a90d4cb4ecc843e7564161e3d29
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We co
Externí odkaz:
https://doaj.org/article/5bcc5203a9df4ca3a5d7188233c212fb
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Tomoyuki Shimazu, Yuki Matsushita, Takahito Inoue, Shinichi Hirose, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100850- (2022)
Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate r
Externí odkaz:
https://doaj.org/article/8b268ceb9fbe409a863a9ad2cc28d5c3
Autor:
Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause
Externí odkaz:
https://doaj.org/article/8062074bac414e27a9ff64361383c3cc
Autor:
Jun Kido, Shirou Matsumoto, Eiko Takeshita, Chiemi Hayakawa, Keitaro Yamada, Jiro Kagawa, Yoko Nakajima, Tetsuya Ito, Hiroyuki Iijima, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100805- (2021)
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifesta
Externí odkaz:
https://doaj.org/article/c4b22b71401143fe8b39cc0b21142d7c
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by D
Externí odkaz:
https://doaj.org/article/08140c4e5266414f9f2ee3a4e3e8df16
Autor:
Takaaki Sawada, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Ken Momosaki, Takahito Inoue, Go Tajima, Hirotake Sawada, Shirou Mastumoto, Fumio Endo, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. I
Externí odkaz:
https://doaj.org/article/83888c1f15a64980a61065ec7cb18971
Autor:
Kazuhide Kikawa, Daisuke Sakano, Nobuaki Shiraki, Tomonori Tsuyama, Kazuhiko Kume, Fumio Endo, Shoen Kume
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95451 (2014)
Islet transplantation is a promising potential therapy for patients with type 1 diabetes. The outcome of islet transplantation depends on the transplantation of a sufficient amount of β-cell mass. However, the initial loss of islets after transplant
Externí odkaz:
https://doaj.org/article/e8a98d0101f94497a9ba409eafad735c
Publikováno v:
Stem Cells International, Vol 2012 (2012)
Branching morphogenesis (BrM), an essential step for salivary gland development, requires epithelial-mesenchymal interactions. BrM is impaired when the surrounding mesenchyme is detached from the salivary epithelium during the pseudoglandular stage.
Externí odkaz:
https://doaj.org/article/98338b7c72a6412fb8aa3465f48eff97
Publikováno v:
Drug metabolism and pharmacokinetics. 48
TAK-123, a combination of sodium phenylacetate (NaPA) and sodium benzoate (NaBZ), is an intravenously administered drug developed for the treatment of acute hyperammonemia in infants, children, and adults with urea cycle enzyme deficiencies. The aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64d16f29abc2e33fa96dd3ad58987d8
https://pubmed.ncbi.nlm.nih.gov/36529053
https://pubmed.ncbi.nlm.nih.gov/36529053