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

Abstract 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...

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Autores principales: Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/486e2509b932488d83bb2463ee51ff9c
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