Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Molecular Genetics And Metabolism Reports
Maguolo, A A; Rodella, G G; Dianin, A A; Nurti, R R; Monge, I I; Rigotti, E E; Cantalupo, G G; Salviati, L L; Tucci, S S; Pellegrini, F F; Molinaro, G G; Lupi, F F; Tonin, P P; Pasini, A A; Campostrini, N N; Ion Popa, F F; Teofoli, F F; Vincenzi, M M; Camilot, M M; Piacentini, G G; Bordugo, A A
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
Bba Clinical
Tonin, Rodolfo R; Caciotti, Anna A; Funghini, Silvia S; Pasquini, Elisabetta E; Mooney, Sean D SD; Cai, Binghuang B; Proncopio, Elena E; Donati, Maria Alice MA; Baronio, Federico F; Bettocchi, Ilaria I; Cassio, Alessandra A; Biasucci, Giacomo G; Bordugo, Andrea A; la Marca, Giancarlo G; Guerrini, Renzo R; Morrone, Amelia A