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Autor:
Laura López Marín, Silvia Cámara Barrio, María de la Concepción Fournier Del Castillo, Luis González Gutiérrez-Solana, Borja Esteso Orduña, Verónica Cantarín Extremera, Izaskun Basterra Jiménez
Publikováno v:
Neurodegenerative disease management. 10(2)
Niemann–Pick type C (NP-C) disease is a neurovisceral atypical lysosomal lipid storage disorder with a poor prognosis. We present the 5-year neuropsychological follow-up of a patient with juvenile onset NP-C, spanning the pre-diagnostic stage to th