Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

Lactic acidosis is a build-up of lactic acid in the blood and tissues, which can be due to several inborn errors of metabolism as well as nongenetic conditions. Deficiency of pyruvate dehydrogenase complex (PDHC) is the most common genetic disorder leading to lactic acidosis. Phosphorylation of spec...

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Autori principali: Ferriero, Rosa, Manco, Giuseppe, Lamantea, Eleonora, Nusco, Edoardo, Ferrante, Mariella I., Sordino, Paolo, Stacpoole, Peter W., Lee, Brendan, Zeviani, Massimo, Brunetti-Pierri, Nicola
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102924/
https://ncbi.nlm.nih.gov/pubmed/23467562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3004986
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