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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.
Welford, Richard W D; Garzotti, Marco; Marques Lourenço, Charles; Mengel, Eugen; Marquardt, Thorsten; Reunert, Janine; Amraoui, Yasmina; Kolb, Stefan A; Morand, Olivier; Groenen, Peter.
Afiliação
  • Welford RW; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
  • Garzotti M; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
  • Marques Lourenço C; Hospital das Clínicas de Ribeirão Preto, São Paulo, Brazil.
  • Mengel E; Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Marquardt T; Klinik für Kinder- und Jugendmedizin, Münster, Germany.
  • Reunert J; Klinik für Kinder- und Jugendmedizin, Münster, Germany.
  • Amraoui Y; Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Kolb SA; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
  • Morand O; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
  • Groenen P; Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.
PLoS One ; 9(12): e114669, 2014.
Article em En | MEDLINE | ID: mdl-25479233
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilcolina / Esfingosina / Biomarcadores / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilcolina / Esfingosina / Biomarcadores / Doença de Niemann-Pick Tipo C Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article