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

<h4>Introduction</h4>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 (...

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Autores principales: Susanne Hopf, Julia B Hennermann, Alexander K Schuster, Norbert Pfeiffer, Susanne Pitz
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
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Acceso en línea:https://doaj.org/article/ccfdc3d1610743aaab94dc3c53490199
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