A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( PDP1 ) causing pyruvate dehydrogenase complex deficiency
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, DouglasVolume:
48
Language:
english
Journal:
JIMD Reports
DOI:
10.1002/jmd2.12054
Date:
July, 2019
File:
PDF, 1.71 MB
english, 2019