Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hitomi Nishihata"'
Autor:
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R. Nitta, Yukiko Yatsuka, Atsuko Imai- Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p1005-1015, 24p
Autor:
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Journal of Medical Genetics. :jmg-2022
BackgroundEnoyl-CoA hydratase short-chain 1 (ECHS1) is an enzyme involved in the metabolism of branched chain amino acids and fatty acids. Mutations in theECHS1gene lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, resulting in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a900f39473c165a6ded6cd9041021db3
https://doi.org/10.1136/jmg-2022-109027
https://doi.org/10.1136/jmg-2022-109027