TY  - JOUR
AU  - De Castro-Orós, Isabel
AU  - Irún, Pilar
AU  - Cebolla, Jorge Javier
AU  - Rodriguez-Sureda, Victor
AU  - Mallén, Miguel
AU  - Pueyo, María Jesús
AU  - Mozas, Pilar
AU  - Dominguez, Carmen
AU  - Pocoví, Miguel
AU  - Spanish NP-C Group
PY  - 2017
DO  - 10.1186/s12967-017-1146-3
UR  - https://hdl.handle.net/10668/25259
T2  - Journal of translational medicine
AB  - Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of...
LA  - en
KW  - 7-ketocholesterol
KW  - CCL18/PARC
KW  - Chitotriosidase
KW  - Diagnosis
KW  - NP-C suspicion index
KW  - Niemann-Pick disease type C
KW  - Screening
KW  - Adolescent
KW  - Adult
KW  - Chemokines, CC
KW  - Child
KW  - Child, Preschool
KW  - Computer Simulation
KW  - Demography
KW  - Family
KW  - Female
KW  - Filipin
KW  - Hexosaminidases
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Niemann-Pick Disease, Type C
KW  - Oxysterols
KW  - Prospective Studies
KW  - Young Adult
TI  - Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
TY  - research article
VL  - 15
ER  -