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Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann–Pick Type C

BACKGROUND: Adult-onset Niemann–Pick Type C is a rare neurogenetic lysosomal disorder, whose diagnosis is often delayed and missed because of its heterogeneous clinical presentations and rarity as well as the lack of awareness of characteristic eye findings among neurologists. PHENOMENOLOGY SHOWN: I...

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Detalles Bibliográficos
Autores principales: Gupta, Deepak K., Blanco-Palmero, Victor A., Chung, Wendy K., Kuo, Sheng-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6026281/
https://www.ncbi.nlm.nih.gov/pubmed/29971198
http://dx.doi.org/10.7916/D8XS7BGD