Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

por Amartino, H., Ceci, Romina, Masllorens, F., Gal, A., Arberas, C., Bay, L., Ilari, R., Dipierri, J., Specola, N., Cabrera, A., Rozenfeld, P.
Publicado 2014

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

por Dardis, Andrea Elena, Michelakakis, Helen, Rozenfeld, Paula Adriana, Fumic, Ksenija, Wagner, J., Pavan, Eleonora, Fuller, M., Revel‑Vilk, S., Hughes, D., Cox, Timothy, Aerts, Johannes
Publicado 2022