학술논문
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Document Type
Report
Author
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, 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, Jonl; 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.; Haberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia
Source
Orphanet Journal of Rare Diseases. July 19, 2018, Vol. 13 Issue 1
Subject
Language
English
ISSN
1750-1172
Abstract
Author(s): Birgit M. Repp[sup.1,2] , Elisa Mastantuono[sup.1,2] , Charlotte L. Alston[sup.3] , Manuel Schiff[sup.4,5] , Tobias B. Haack[sup.1,46] , Agnes Rötig[sup.6] , Anna Ardissone[sup.7,8,9] , Anne Lombès[sup.10] , Claudia B. [...]