Show 5 5 10 15 20 50 100 250 Sort by year (new to old) Actions Save this search Download search results Subscribe to news feed Your filters: cql: author="Ghezzi, Daniele" or (type any "bookEditor issueEditor" and editor="Ghezzi, Daniele") 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 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander (UGent) , Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, et al. (2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(6). p.708-720