Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

BACKGROUND: Niemann–Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicentre, prospective observational study (Clinical Trials.gov ID: NCT02435030) of i...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Mengel, Eugen, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7684888/
https://ncbi.nlm.nih.gov/pubmed/33228797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01616-0
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