Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Heydi Baide-Mairena"'
Autor:
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation o
Externí odkaz:
https://doaj.org/article/1dfc4ef2a8f84380aa58662d4d43c82c
Autor:
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation of certai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5b13a1fe8d788a398aed073a0325cc
https://pubmed.ncbi.nlm.nih.gov/36064416
https://pubmed.ncbi.nlm.nih.gov/36064416