Associated Papers
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 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
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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