TY  - GEN 
AU  - Rodrigues, D.
AU  - De Castro López, María José
AU  - Crujeiras Barral, Pablo
AU  - Duat-Rodriguez, A.
AU  - Marco, A.V.
AU  - del Toro, M.
AU  - Couce Pico, María Luz
AU  - Colón Mejeras, Cristobal
PY  - 2022
SN  - 2296-2360
UR  - http://hdl.handle.net/20.500.11940/20443
AB  - Introduction: Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. Neuronal Ceroid lipofuscinosis type 2 disease (NCL2), caused by the deficient lysosomal...
LA  - eng
TI  - The LINCE Project: A Pathway for Diagnosing NCL2 Disease
DO  - 10.3389/fped.2022.876688
KW  - AS Santiago
KW  - CHUS
KW  - IDIS
VL  - 10
ER  -