NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge. In view of these difficulties, the search for a novel, NPC1-specific biomarker (or set of bioma...

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Detalles Bibliográficos
Autores principales: Probert, Fay, Ruiz-Rodado, Victor, Vruchte, Danielle te, Nicoli, Elena-Raluca, Claridge, Tim D. W., Wassif, Christopher A., Farhat, Nicole, Porter, Forbes D., Platt, Frances M., Grootveld, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524790/
https://www.ncbi.nlm.nih.gov/pubmed/28740230
http://dx.doi.org/10.1038/s41598-017-06264-2

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