Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

Niemann–Pick disease type C1 (NPC1) is a rare, prematurely fatal lysosomal storage disorder which exhibits highly variable severity and disease progression as well as a wide-ranging age of onset, from perinatal stages to adulthood. This heterogeneity has made it difficult to obtain prompt diagnosis...

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Detalles Bibliográficos
Autores principales: Baxter, Laura L., Watkins-Chow, Dawn E., Johnson, Nicholas L., Farhat, Nicole Y., Platt, Frances M., Dale, Ryan K., Porter, Forbes D., Pavan, William J., Rodriguez-Gil, Jorge L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8828765/
https://www.ncbi.nlm.nih.gov/pubmed/35140266
http://dx.doi.org/10.1038/s41598-022-06112-y

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