Article
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.
Journal of translational medicine - 21 Feb 2017
De Castro-Orós Isabel, Irún Pilar, Cebolla Jorge Javier, Rodriguez-Sureda Victor, Mallén Miguel, Pueyo María Jesús, Mozas Pilar, Dominguez Carmen, Pocoví Miguel
Abstract excerpt
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 signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated...
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