Zobrazeno 1 - 2
of 2
pro vyhledávání: '"C5:1, tiglylcarnitine"'
Autor:
Sonia Pajares, J. Garcia-Villoria, Laura Gort, Ana Argudo-Ramírez, Olatz Ugarteburu, J.M. González De Aledo-Castillo, Antonia Ribes, J. A. Arranz, Frederic Tort, R.M. López, M.D. Casellas, Raúl Debesa Fernández, José Luis Marín, M. del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b97a5762017c7115787a61efed9d8d
http://europepmc.org/articles/PMC6940607
http://europepmc.org/articles/PMC6940607
Autor:
Pajares S; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., López RM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Gort L; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Argudo-Ramírez A; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Marín JL; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., González de Aledo-Castillo JM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., García-Villoria J; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Arranz JA; Metabolic Laboratory and Neuropediatric Service, Hospital Universitario Vall de Hebron, Barcelona, Spain., Del Toro M; Metabolic Laboratory and Neuropediatric Service, Hospital Universitario Vall de Hebron, Barcelona, Spain., Tort F; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Ugarteburu O; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Casellas MD; Pediatric Service, Hospital Universitario Dr. Josep Trueta, Gerona, Spain., Fernández R; Public Health Agency, Health Department of Generalitat of Catalonia, Spain., Ribes A; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Jan 02; Vol. 22, pp. 100553. Date of Electronic Publication: 2020 Jan 02 (Print Publication: 2020).