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Ocular findings in a patient with fucosidosis

PURPOSE: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. OBSERVATIONS: A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing impairment and mild developmental delay. A lysosoma...

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Detalles Bibliográficos
Autores principales:	Sánchez, Lucía Rivera, Oatts, Julius T., Duncan, Jacque L., Packman, Seymour, Moore, Anthony T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Case report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757485/ https://www.ncbi.nlm.nih.gov/pubmed/29503934 http://dx.doi.org/10.1016/j.ajoc.2016.10.003

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