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

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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

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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, [120]. https://doi.org/10.1186/s13023-018-0784-8

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. / Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13.

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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.",

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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

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