OBO ID: DOID:3649

Citations

(2 total)

Term: pyruvate decarboxylase deficiency

Ferriero, R., Manco, G., Lamantea, E., Nusco, E., Ferrante, M.I., Sordino, P., Stacpoole, P.W., Lee, B., Zeviani, M., and Brunetti-Pierri, N. (2013) Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Science Translational Medicine. 5(175):175ra31

Taylor, M.R., Hurley, J.B., Van Epps, H.A., and Brockerhoff, S.E. (2004) A zebrafish model for pyruvate dehydrogenase deficiency: Rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. Proceedings of the National Academy of Sciences of the United States of America. 101(13):4584-4589