Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A identified by whole exome sequencing of proba...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J. A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5382105/
https://ncbi.nlm.nih.gov/pubmed/28202214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.02.002
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