Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?

Repp, Birgit M.;Mastantuono, Elisa;Alston, Charlotte L.;Schiff, Manuel;Haack, Tobias B.;Rötig, Agnes;Ardissone, Anna;Lombès, Anne;Catarino, Claudia B.;Diodato, Daria;Schottmann, Gudrun;Poulton, Joanna;Burlina, Alberto;Jonckheere, An;Munnich, Arnold;Rolinski, Boris;Ghezzi, Daniele;Rokicki, Dariusz;Wellesley, Diana;Martinelli, Diego;Wenhong, Ding;Lamantea, Eleonora;Ostergaard, Elsebet;Pronicka, Ewa;Pierre, Germaine;Smeets, Hubert J. M.;Wittig, Ilka;Scurr, Ingrid;De Coo, Irenaeus F. M.;Moroni, Isabella;Smet, Joél;Mayr, Johannes A.;Dai, Lifang;De Meirleir, Linda;Schuelke, Markus;Zeviani, Massimo;Morscher, Raphael J.;McFarland, Robert;Seneca, Sara;Klopstock, Thomas;Meitinger, Thomas;Wieland, Thomas;Strom, Tim M.;Herberg, Ulrike;Ahting, Uwe;Sperl, Wolfgang;Nassogne, Marie-Cecile;Ling, Han;Fang, Fang;Freisinger, Peter;Van Coster, Rudy;Strecker, Valentina;Taylor, Robert W.;Häberle, Johannes;Vockley, Jerry;Prokisch, Holger;Wortmann, Saskia

2018