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A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

AIM: To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated ‘macular cherry-red spot’. METHODS: Seven...

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Detalles Bibliográficos
Autores principales:	Daich Varela, Malena, Zein, Wadih M, Toro, Camilo, Groden, Catherine, Johnston, Jean, Huryn, Laryssa A, d’Azzo, Alessandra, Tifft, Cynthia J, FitzGibbon, Edmond J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Clinical Science
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142419/ https://www.ncbi.nlm.nih.gov/pubmed/32753397 http://dx.doi.org/10.1136/bjophthalmol-2020-316826

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