Show 100 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Pronicka, Ewa" or (type any "bookEditor issueEditor" and editor="Pronicka, Ewa") Add to list Journal Article A1 open access 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, et al. (2018) ORPHANET JOURNAL OF RARE DISEASES. 13. Add to list Journal Article A1 open access Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Oláhová, Tobias B Haack, Joél Smet (UGent) , Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, et al. (2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(1). p.217-227