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Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, BM ; Mastantuono, E ; Alston, CL...
Repp , BM , Mastantuono , E , 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 , Rolinski , B , Ghezzi , D , Rokicki , D , Wellesley , D , Martinelli , D , Ding , WH , Lamantea , E , Ostergaard , E , Pronicka , E , Pierre , G , Smeets , HJM , Wittig , I , Scurr , I , Coo , IFM , Moroni , I , Smet , J , Mayr , JA , Dai , LF , de Meirleir , L , Schuelke , M , Zeviani , M , Morscher , RJ , McFarland , R , Seneca , S , Klopstock , T , Meitinger , T , Wieland , T , Strom , TM , Herberg , U , Ahting , U , Sperl , W , Nassogne , MC , Ling , H , Fang , F , Freisinger , P , Van Coster , R , Strecker , V , Taylor , RW , Haberle , J , Vockley , J , Prokisch , H & Wortmann , S 2018 , ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? ' , Orphanet Journal of Rare Diseases , vo....  , 2018