Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Por Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.
Publicado no Mol Genet Metab (2017)

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Por Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicado no JIMD Rep (2019)