Valine metabolites analysis in ECHS1 deficiency

Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date. The accumulation of intermediate metabolites of v...

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Detalles Bibliográficos
Autores principales: Kuwajima, Mari, Kojima, Karin, Osaka, Hitoshi, Hamada, Yusuke, Jimbo, Eriko, Watanabe, Miyuki, Aoki, Shiho, Sato-Shirai, Ikuko, Ichimoto, Keiko, Fushimi, Takuya, Murayama, Kei, Ohtake, Akira, Kohda, Masakazu, Kishita, Yoshihito, Yatsuka, Yukiko, Uchino, Shumpei, Mimaki, Masakazu, Miyake, Noriko, Matsumoto, Naomichi, Okazaki, Yasushi, Ogata, Tomomi, Yamagata, Takanori, Muramatsu, Kazuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8507190/
https://www.ncbi.nlm.nih.gov/pubmed/34667719
http://dx.doi.org/10.1016/j.ymgmr.2021.100809

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