Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
Jennifer L. Sloan(National Institutes of Health), Charles P. Venditti(National Institutes of Health), Bruce A. Barshop(University of California San Diego), Justin R. Sysol(National Institutes of Health), Caitlin Krause(National Institutes of Health), Neena L. Champaigne(Harvard University Press), Michael D. Geschwind(University Memory and Aging Center), Irini Manoli(National Institutes of Health), Nuria Carrillo(National Institutes of Health), Julie C. Sapp(National Institutes of Health), Natalie Hauser(National Institutes of Health), Vassilli Valayannopoulos, Heidi Dorward(National Institutes of Health), Pascale de Lonlay(Hôpital Necker-Enfants Malades), Marjan Huizing(National Human Genome Research Institute), Suma Chandrasekaran(National Institutes of Health), Kevin O’Brien(National Institutes of Health), Philip James(Boston Children's Hospital), William L. Nyhan(University of California San Diego), Leslie G. Biesecker(National Institutes of Health), Dimitar K. Gavrilov(Mayo Clinic), Randy J. Chandler(National Institutes of Health), Jennifer J. Johnston(National Institutes of Health), Susan A. Berry(University of Minnesota Medical Center)
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