Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Thiamine pyrophosphate (TPP) is an essential cofactor of the cytosolic transketolase and of three mitochondrial enzymes involved in the oxidative decarboxylation of either pyruvate, α-ketoglutarate or branched chain amino acids. Thiamine is taken up by specific transporters into the cell and convert...

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Main Authors: Mayr, Johannes A., Freisinger, Peter, Schlachter, Kurt, Rolinski, Boris, Zimmermann, Franz A., Scheffner, Thomas, Haack, Tobias B., Koch, Johannes, Ahting, Uwe, Prokisch, Holger, Sperl, Wolfgang
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2011
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234371/
https://ncbi.nlm.nih.gov/pubmed/22152682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.007
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