Articles tagged "Lysosomal disorders"

2016 International Congress
A heterozygous splicing variant in NPC2 in a patient with PSP
C. Castro-Fernández, C. García-Sancho, V. Rodríguez-Sureda, R. Martínez-Regueiro, P. Aguiar, P. Blanco-Arias, C. Pérez-Sousa, P. Díaz, C. Domínguez, M. Fernández-Prieto, T. García-Sobrino, J. Cortés, M. Arias, M.J. Sobrido (Santiago de Compostela, Spain)
Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…