Authors: Tiranti, Valeria D'Adamo, Pio Briem, Egill Ferrari, Gianfrancesco Mineri, Rossana Lamantea, Eleonora Mandel, Hanna Balestri, Paolo Garcia-Silva, Maria-Teresa Vollmer, Brigitte Rinaldo, Piero Hahn, Si Houn Leonard, James Rahman, Shamima Dionisi-Vici, Carlo Garavaglia, Barbara Gasparini, Paolo Zeviani, Massimo

Citation: Tiranti, Valeria et al., Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein, American journal of human genetics , 74(2), 2004, pp. 239-252