New variant associated with Niemann-Pick disease type C: neurological manifestations and biochemical, molecular, and cellular characterisation

Autor: López de Frutos, L., Romero-Imbroda, J., Rodríguez-Sureda, V., Giraldo, P.
Zdroj: In Neurología (English Edition) January-February 2020 35(1):50-52
Databáze: ScienceDirect