Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo-Carrasco, Suma D. Chandrasekaran, Justin R. Sysol, Kevin O'Brien, Natalie S. Hauser, Julie C. Sapp, Heidi M. Dorward, Marjan Huizing, Bruce A. Barshop, Susan A. Berry, Philip M. James, Neena L. Champaigne, Pascale De Lonlay, Vassilli Valayannopoulos, Michael D. GeschwindDimitar K. Gavrilov, William L. Nyhan, Leslie G. Biesecker, Charles P. Venditti

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