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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.
De Castro-Orós, Isabel; Irún, Pilar; Cebolla, Jorge Javier; Rodriguez-Sureda, Victor; Mallén, Miguel; Pueyo, María Jesús; Mozas, Pilar; Dominguez, Carmen; Pocoví, Miguel.
  • De Castro-Orós I; Department of Biochemistry and Molecular and Cellular Biology, Faculty of Science, University of Zaragoza, C. Pedro Cerbuna 12, 50009, Saragossa, Spain. isadco@gmail.com.
  • Irún P; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Saragossa, Spain. isadco@gmail.com.
  • Cebolla JJ; Department of Biochemistry and Molecular and Cellular Biology, Faculty of Science, University of Zaragoza, C. Pedro Cerbuna 12, 50009, Saragossa, Spain.
  • Rodriguez-Sureda V; Instituto de Investigación Sanitaria Aragón (IIS Aragón), Saragossa, Spain.
  • Mallén M; Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.
  • Pueyo MJ; Department of Biochemistry and Molecular and Cellular Biology, Faculty of Science, University of Zaragoza, C. Pedro Cerbuna 12, 50009, Saragossa, Spain.
  • Mozas P; Spanish Foundation for the Study and Therapy of Gaucher Disease, Saragossa, Spain.
  • Dominguez C; Centro de Investigación Biomédica en Red (CIBERER), Instituto de Salud Carlos III, Saragossa, Spain.
  • Pocoví M; Biochemistry and Molecular Biology Research Centre for Nanomedicine, Vall d'Hebron University Hospital, Barcelona, Spain.
J Transl Med ; 15(1): 43, 2017 02 21.
Article en En | MEDLINE | ID: mdl-28222799
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Quimiocinas CC / Enfermedad de Niemann-Pick Tipo C / Hexosaminidasas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Quimiocinas CC / Enfermedad de Niemann-Pick Tipo C / Hexosaminidasas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Año: 2017 Tipo del documento: Article