Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

por Kiss, Sharmila, Lee, Joy Yaplito, Pitt, James, MacGregor, Duncan, Wallace, Jane, Marty, Melanie, Brown, Natasha J.
Publicado 2020

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