Publications:

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

De Castro-Orós, Isabel I; Irún, Pilar P; Cebolla, Jorge Javier JJ; Rodriguez-Sureda, Victor V; Mallén, Miguel M; Pueyo, María Jesús MJ; Mozas, Pilar P; Dominguez, Carmen C; Pocoví, Miguel M; ,

Publication Date: 2017-02-21

Variant appearance in text: NPC1: Arg1173Gly

PubMed Link: 28222799

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1146.pdf

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Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.

Plos One

Marques, André R A AR; Gabriel, Tanit L TL; Aten, Jan J; van Roomen, Cindy P A A CP; Ottenhoff, Roelof R; Claessen, Nike N; Alfonso, Pilar P; Irún, Pilar P; Giraldo, Pilar P; Aerts, Johannes M F G JM; van Eijk, Marco M

Publication Date: 2016

Variant appearance in text: NPC1: R1173G

PubMed Link: 26771826

Variant Present in the following documents:

• pone.0147208.s002.xls, sheet 1

View BVdb publication page