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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ccfdc3d1610743aaab94dc3c53490199

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PloS one, 2021-06, Vol.16 (6), p.e0252825

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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, dementia, cataplexy, epileptic seizures, and psychiatric disord...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_ccfdc3d1610743aaab94dc3c53490199

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ccfdc3d1610743aaab94dc3c53490199

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0252825

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