Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)

(1) Background: Niemann–Pick type C disease (NPCD) is an autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients presenting a severe perinat...

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Detalles Bibliográficos
Autores principales: Dardis, Andrea, Pavan, Eleonora, Fabris, Martina, Da Riol, Rosalia Maria, Sechi, Annalisa, Fiumara, Agata, Santoro, Lucia, Ormazabal, Maximiliano, Milanic, Romina, Zampieri, Stefania, Biasizzo, Jessica, Scarpa, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8537496/
https://www.ncbi.nlm.nih.gov/pubmed/34682919
http://dx.doi.org/10.3390/jcm10204796

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