Article

Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients

2020-08-11

Abstract excerpt

Niemann-Pick type C (NPC) is a rare lysosomal storage disorder with ocular motor involvement. In a multicontinental, cross-sectional study we characterized ocular motor function in 72 genetically proven patients from twelve countries by means of video-oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self-paced saccades, smooth...

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Literature Corpus work: f91010c0-04d1-5136-8eba-dcae6c54623c
DOI: 10.1101/2020.08.05.20158915

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