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Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

The nucleus-encoded mitochondrial pyruvate dehydrogenase enzyme complex plays key roles in cellular energy metabolism and acid-base equilibrium. Pyruvate dehydrogenase complex deficiency is due to loss-of-function mutation in one of the five component enzymes, most commonly E1α-subunit. The common c...

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Detalhes bibliográficos
Main Authors: Singhi, Pratibha, De Meirleir, Linda, Lissens, Willy, Singhi, Sunit, Saini, Arushi Gahlot
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755565/
https://ncbi.nlm.nih.gov/pubmed/23430811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_211
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