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

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

doi:10.1186/s13023-018-0784-8

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

Birgit M Repp
, Elisa Mastantuono
, Charlotte L Alston
, Manuel Schiff
, Tobias B Haack
, Agnes Rötig
, Anna Ardissone
, Anne Lombès
, Claudia B Catarino
, Daria Diodato
, Gudrun Schottmann
, Joanna Poulton
, Alberto Burlina
, An Jonckheere
, Arnold Munnich
, Boris Rolinski
, Daniele Ghezzi
, Dariusz Rokicki
, Diana Wellesley
, Diego Martinelli

Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J M Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F M de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr (Co-Autor/-in), Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael Johannes Morscher (Co-Autor/-in), Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl (Co-Autor/-in), Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann^* (Letztautor/-in)

^*Korrespondierende/r Autor/-in für diese Arbeit

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

58 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	120
Fachzeitschrift	ORPHANET JOURNAL OF RARE DISEASES
Jahrgang	13
Ausgabenummer	1
DOIs	https://doi.org/10.1186/s13023-018-0784-8
Publikationsstatus	Veröffentlicht - 2018

Zugriff auf Dokument

10.1186/s13023-018-0784-8

Dieses zitieren

Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., 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(1), 120. https://doi.org/10.1186/s13023-018-0784-8

@article{08d4954eb991469eb3a30cbcbf781849,

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

keywords = "COMPLEX-I DEFICIENCY, PHENOTYPIC SPECTRUM, SKELETAL-MUSCLE, OXIDATION, MUTATIONS, BEZAFIBRATE, DISORDERS, DIAGNOSIS, CELLS, PAGE",

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

note = "Sperl, W; Mayr, JA; Morscher, RJ; Wortmann, S: Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria",

year = "2018",

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

language = "English",

volume = "13",

pages = "120",

journal = "ORPHANET JOURNAL OF RARE DISEASES",

issn = "1750-1172",

publisher = "Springer Nature",

number = "1",

}

Repp, BM, Mastantuono, E, Alston, CL, Schiff, M, Haack, TB, Rötig, A, Ardissone, A, Lombès, 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, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJM, Wittig, I, Scurr, I, de Coo, IFM, Moroni, I, Smet, J, Mayr, JA, Dai, L, 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, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, RW, Häberle, 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, Jg. 13, Nr. 1, S. 120. https://doi.org/10.1186/s13023-018-0784-8