Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. NPC is inherited...

Descripción completa

Detalles Bibliográficos
Autores principales: Sitarska, Dominika, Ługowska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744384/
https://www.ncbi.nlm.nih.gov/pubmed/31197681
http://dx.doi.org/10.1007/s11011-019-00445-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744384/
https://www.ncbi.nlm.nih.gov/pubmed/31197681
http://dx.doi.org/10.1007/s11011-019-00445-w

Ejemplares similares