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Niemann-Pick disease type C,Chitotriosidase,CCL18/PARC,NP-C suspicion index,7-ketocholesterol,Diagnosis,Screening
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doi:10.1186/s12967-017-1146-3
BioMed Central
Journal of Translational Medicine, doi:10.1186/s12967-017-1146-3
Niemann-Pick disease type C
Chitotriosidase
CCL18/PARC
NP-C suspicion index
7-ketocholesterol
Diagnosis
Screening
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
Isabel Castro-Orós
Pilar Irún
Jorge Javier Cebolla
Victor Rodriguez-Sureda
Miguel Mallén
María Jesús Pueyo
Pilar Mozas
Carmen Dominguez
Miguel Pocoví
10.1186/s12967-017-1146-3
2010-04-23
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