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

BM Repp; E Mastantuono; CL Alston; M Schiff; TB Haack; A Rotig; A Ardissone; A Lombes; CB Catarino; D Diodato; G Schottmann; J Poulton; A Burlina; A Jonckheere; A Munnich; B Rolinski; D Ghezzi; D Rokicki; D Wellesley; D Martinelli; WH Ding; E Lamantea; E Ostergaard; E Pronicka; G Pierre; HJM Smeets; I Wittig; I Scurr; IFM Coo; I Moroni; J Smet; JA Mayr; LF Dai; L de Meirleir; M Schuelke; M Zeviani; RJ Morscher; R McFarland; S Seneca; T Klopstock; T Meitinger; T Wieland; TM Strom; U Herberg; U Ahting; W Sperl; MC Nassogne; H Ling; F Fang; P Freisinger; R Van Coster; V Strecker; RW Taylor; J Haberle; J Vockley; H Prokisch; S Wortmann

doi:10.1186/s13023-018-0784-8

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

BM Repp, E Mastantuono, CL Alston, M Schiff, TB Haack, A Rotig, A Ardissone, A Lombes, CB Catarino, D Diodato, G Schottmann, J Poulton, A Burlina, A Jonckheere, A Munnich, B Rolinski, D Ghezzi, D Rokicki, D Wellesley, D MartinelliWH Ding, E Lamantea, E Ostergaard, E Pronicka, G Pierre, HJM Smeets, I Wittig, I Scurr, IFM Coo, I Moroni, J Smet, JA Mayr, LF Dai, L de Meirleir, M Schuelke, M Zeviani, RJ Morscher, R McFarland, S Seneca, T Klopstock, T Meitinger, T Wieland, TM Strom, U Herberg, U Ahting, W Sperl, MC Nassogne, H Ling, F Fang, P Freisinger, R Van Coster, V Strecker, RW Taylor, J Haberle, J Vockley, H Prokisch, S Wortmann

Neurology

Research output: Contribution to journal › Article › Academic › peer-review

52 Citations (Scopus)

34 Downloads (Pure)

Original language	Undefined/Unknown
Article number	120
Journal	Orphanet Journal of Rare Diseases
Volume	13
DOIs	https://doi.org/10.1186/s13023-018-0784-8
Publication status	Published - 2018

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10.1186/s13023-018-0784-8

REPUB_109529-OA.pdfFinal published version, 3.28 MB

http://hdl.handle.net/1765/109529

Cite this

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., ... Wortmann, S. (2018). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases, 13, Article 120. https://doi.org/10.1186/s13023-018-0784-8

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title = "Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?",

author = "BM Repp and E Mastantuono and CL Alston and M Schiff and TB Haack and A Rotig and A Ardissone and A Lombes and CB Catarino and D Diodato and G Schottmann and J Poulton and A Burlina and A Jonckheere and A Munnich and B Rolinski and D Ghezzi and D Rokicki and D Wellesley and D Martinelli and WH Ding and E Lamantea and E Ostergaard and E Pronicka and G Pierre and HJM Smeets and I Wittig and I Scurr and IFM Coo and I Moroni and J Smet and JA Mayr and LF Dai and {de Meirleir}, L and M Schuelke and M Zeviani and RJ Morscher and R McFarland and S Seneca and T Klopstock and T Meitinger and T Wieland and TM Strom and U Herberg and U Ahting and W Sperl and MC Nassogne and H Ling and F Fang and P Freisinger and {Van Coster}, R and V Strecker and RW Taylor and J Haberle and J Vockley and H Prokisch and S Wortmann",

year = "2018",

doi = "10.1186/s13023-018-0784-8",

language = "Undefined/Unknown",

volume = "13",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central Ltd.",

}

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, vol. 13, 120. https://doi.org/10.1186/s13023-018-0784-8