Associated Papers
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Tajir M et al.
European Journal of Medical Genetics, 2012
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Barnerias C et al.
Developmental Medicine and Child Neurology, 2010
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
Berendzen K et al.
Mitochondrion, 2006
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Dey R et al.
Annals of Neurology, 2003
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
Miné M et al.
Molecular Genetics and Metabolism, 0
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