Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

por Van Bergen, Nicole J., Hock, Daniella H., Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M., D’Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J., Thorburn, David R., Stroud, David A., White, Susan M., Christodoulou, John, Brown, Natasha J.
Publicado 2022