Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype

Por Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.
Publicado no JIMD Rep (2015)