Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). by Poulton, J, Hirano, M, Spinazzola, A, Arenas Hernandez, M, Jardel, C, Lombès, A, Czermin, B, Horvath, R, Taanman, J, Rotig, A, Zeviani, M, Fratter, C

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? by Mastantuono, E, Repp, B, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJ, Scurr, I, De Coo, IF, Moroni, I, Smet, J, Mayr, JA, De Meirleir, L, Schuelke, M, Zeviani, M, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Strom, TM, Herberg, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S