TY  - JOUR
AU  - De Castro-Oros, Isabel
AU  - Irun, Pilar
AU  - Javier Cebolla, Jorge
AU  - Rodriguez-Sureda, Victor
AU  - Mallen, Miguel
AU  - Jesus Pueyo, Maria
AU  - Mozas, Pilar
AU  - Dominguez, Carmen
AU  - Pocovi, Miguel
AU  - Spanish NP-C Grp
PY  - 2017
DO  - 10.1186/s12967-017-1146-3
SN  - 1479-5876
UR  - https://hdl.handle.net/10668/25260
T2  - Journal of translational medicine
AB  - Background: 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
PB  - Biomed central ltd
KW  - Niemann-Pick disease type C
KW  - Chitotriosidase
KW  - CCL18/PARC
KW  - NP-C suspicion index
KW  - 7-ketocholesterol
KW  - Diagnosis
KW  - Screening
KW  - Performance liquid-chromatography
KW  - Gaucher-disease
KW  - Cholesterol homeostasis
KW  - Marked elevation
KW  - Rapid diagnosis
KW  - Mutations
KW  - Gene
KW  - Identification
KW  - Disruption
KW  - Phenotype
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  -