Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

por Jones, Simon, Coker, Mahmut, López, Antonio González-Meneses, Sniadecki, Jennifer, Mayhew, Jill, Hensman, Pauline, Jurecka, Agnieszka
Publicado 2021

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene†

por Sobacchi, Cristina, Pangrazio, Alessandra, Lopez, Antonio González-Meneses, Gomez, Diego Pascual-Vaca, Caldana, Maria Elena, Susani, Lucia, Vezzoni, Paolo, Villa, Anna
Publicado 2014