Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report

por Ley-Martos, Myriam, Guerrero, Juan M., Lucas-Javato, Marta, Remón-García, Cristina, García-Lozano, J. Raúl, Colón, Cristóbal, Crujeiras, Pablo, Rodrigues, Daniel, Paúl-Sánchez, Pedro, Macher, Hada C.
Publicado 2018