Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C

INTRODUCTION: Niemann-Pick type C (NPC) is a lysosomal storage disease that is progressive and life-limiting, with an estimated incidence of 1:120,000 live births. In addition to systemic manifestation with (hepato-)splenomegaly, there are a number of neurological manifestations (ataxia, dysarthria,...

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Detalles Bibliográficos
Autores principales: Hopf, Susanne, Hennermann, Julia B., Schuster, Alexander K., Pfeiffer, Norbert, Pitz, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8177533/
https://www.ncbi.nlm.nih.gov/pubmed/34086834
http://dx.doi.org/10.1371/journal.pone.0252825

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8177533/
https://www.ncbi.nlm.nih.gov/pubmed/34086834
http://dx.doi.org/10.1371/journal.pone.0252825

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