Clinical and biochemical characterization of four patients with mutations in ECHS1

BACKGROUND: Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the metabolism of branched-chain ami...

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Publicado en:Orphanet J Rare Dis
Autores principales: Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4474341/
https://ncbi.nlm.nih.gov/pubmed/26081110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0290-1
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