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Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC patients can present with a broad phenotypic spectrum, with differences at the ag...

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Detalles Bibliográficos
Autores principales:	Las Heras, Macarena, Szenfeld, Benjamín, Ballout, Rami A., Buratti, Emanuele, Zanlungo, Silvana, Dardis, Andrea, Klein, Andrés D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421955/ https://www.ncbi.nlm.nih.gov/pubmed/37567876 http://dx.doi.org/10.1038/s41525-023-00365-w

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