Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis
Titel:
Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis
Auteur:
Ribas, G.S. Souza, H.M. de Mari, J. Deon, M. Mescka, C. Saraiva-Pereira, M.L. Kessler, R. Trapp, F. Michelin, K. Burin, M. Vargas, C.R. Giugliani, R.