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MRI Features of 4 Female Patients with Pyruvate Dehydrogenase E1 alpha Deficiency

Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. The majority of patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we...

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Detalhes bibliográficos
Main Authors: Mew, Nicholas Ah, Loewenstein, Johanna B., Kadom, Nadja, Lichter-Konecki, Uta, Gropman, Andrea L., Martin, Jodie M., Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3129538/
https://ncbi.nlm.nih.gov/pubmed/21723463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2011.02.003
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