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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. by Haack, T, Danhauser, K, Haberberger, B, Hoser, J, Strecker, V, Boehm, D, Uziel, G, Lamantea, E, Invernizzi, F, Poulton, J, Rolinski, B, Iuso, A, Biskup, S, Schmidt, T, Mewes, H, Wittig, I, Meitinger, T, Zeviani, M, Prokisch, H
Published 2010Journal article -
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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
Published 2019Conference item