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

Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina

por Mugnaini, Julia, Dodelson de Kremer, Raquel, Oller Ramírez, Ana María, Azar, Nydia Beatriz, Dardis, Andrea, Becerra, Adriana, Zampieri, S., Guelbert, Norberto
Publicado 2022