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

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...

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Detalles Bibliográficos
Autores principales: De Castro-Orós, Isabel, Irún, Pilar, Cebolla, Jorge Javier, Rodriguez-Sureda, Victor, Mallén, Miguel, Pueyo, María Jesús, Mozas, Pilar, Dominguez, Carmen, Pocoví, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320753/
https://www.ncbi.nlm.nih.gov/pubmed/28222799
http://dx.doi.org/10.1186/s12967-017-1146-3

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