TY  - JOUR 
AU  - Couce Pico,  María Luz
AU  - Castiñeiras Ramos, Daisy E
AU  - Cocho de Juan, José Ángel
AU  - Fraga Bermúdez, José María
AU  - Castro Gago, Manuel
AU  - Eiris Puñal, Jesús
AU  - Morey Villar, Marcos
PY  - 2014
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.11940/7675
LA  - eng
TI  - Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
DO  - 10.1186/1750-1172-9-59
T2  - Orphanet Journal of Rare Diseases
VL  - 9
ER  -