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

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

International journal of molecular sciences, 2022-01, Vol.23 (2), p.986 [Periódico revisado por pares]

Switzerland: MDPI AG

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