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

Internet

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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