Publication
New variants expand the neurological phenotype of COQ7 deficiency
María Alcázar Fabra, Abraham J. Paredes‐Fuentes, Manuel Torralba Carnerero, Daniel J. Moreno Férnandez de Ayala, Antonio Arroyo Luque, Ana Sánchez Cuesta, Carmine Staiano, Paula Sanchez‐Pintos, María Luz Couce, Miguel Tomás, Ana Victoria Marco‐Hernández, Carmen Orellana, Francisco Martínez, Mónica Roselló, Alfonso Caro, Juan Silvestre Oltra Soler, Sandra Monfort, Alejandro Sánchez, Dolores Rausell, Isidro Vitoria, Mireia del Toro, Angels Garcia‐Cazorla, Natalia A. Julia‐Palacios, Cristina Jou, Delia Yubero, Luis Carlos López, Juan Diego Hernández Camacho, Guillermo López Lluch, Manuel Ballesteros Simarro, Juan Carlos Rodríguez Aguilera, Gloria Brea Calvo, María Victoria Cascajo Almenara, Rafael Artuch, Carlos Santos‐Ocaña
Journal of Inherited Metabolic Disease, July 2024, Wiley
DOI: 10.1002/jimd.12776