Authors: Ana Fernández-Marmiesse; Marcos Morey; Merce Pineda; Jesús Eiris; Maria Luz Couce; Manuel Castro-Gago; Jose Maria Fraga; Lucia Lacerda; Sofia Gouveia; Maria Socorro Pérez-Poyato; Judith Armstrong; Daisy Castiñeiras; Jose A Cocho Journal: Orphanet J Rare Dis Date: 2014-04-25 Impact factor: 4.123