Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Laura Marti-Sanchez"'
Autor:
Marta Batllori, Mercedes Casado, Cristina Sierra, Maria del Carmen Salgado, Laura Marti-Sanchez, Joan Maynou, Guerau Fernandez, Angels Garcia-Cazorla, Aida Ormazabal, Marta Molero-Luis, Rafael Artuch
Publikováno v:
Fluids and Barriers of the CNS, Vol 16, Iss 1, Pp 1-9 (2019)
Abstract Background Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF contamination with blood on the concentrations of selected biomarkers. Methods CSF
Externí odkaz:
https://doaj.org/article/028801b0ef51474c9069cb2611834f63
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