Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. - Sloan JL; Johnston JJ; Manoli I; Chandler RJ; Krause C; Carrillo-Carrasco N; Chandrasekaran SD; Sysol JR; O'Brien K; Hauser NS; Sapp JC; Dorward HM; et al. (Nature genetics, 2011)