Zobrazeno 1 - 3
of 3
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
Autor:
Pata, Silvia1 (AUTHOR), Flores-Rojas, Katherine1,2 (AUTHOR), Gil, Angel3,4,5 (AUTHOR) agil@ugr.es, López-Laso, Eduardo2,6,7 (AUTHOR), Marti-Sánchez, Laura8,9 (AUTHOR), Baide-Mairena, Heydi10,11 (AUTHOR), Pérez-Dueñas, Belén10,11 (AUTHOR), Gil-Campos, Mercedes1,2,5 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 9/5/2022, Vol. 17 Issue 1, p1-10. 10p.