Associated Papers
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
Bedoyan JK et al.
Jimd Reports, 2019
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency.
Cameron JM et al.
Molecular Genetics and Metabolism, 2007
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