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Title:

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

Document type:
Zeitschriftenaufsatz
Author(s):
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rötig, Agnes; Ardissone, Anna; Lombès, 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,...     »
Journal title:
Orphanet Journal of Rare Diseases
Year:
2018
Journal volume:
13
Journal issue:
1
Fulltext / DOI:
doi:10.1186/s13023-018-0784-8
Publisher:
Springer Nature
E-ISSN:
1750-1172
Date of publication:
19.07.2018
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