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    Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

    The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with p...

    E. Ostergaard, L. Birk Moller… in Journal of Inherited Metabolic Disease (2009)