Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metabolic acidosis, the others with nonspecific neurolo...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5037260/
https://ncbi.nlm.nih.gov/pubmed/27699154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.09.001
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