Optical coherence tomography features in brothers with aspartylglucosaminuria

Aspartylglucosaminuria is a lysosomal storage disorder enriched in Finland. We report on a pair of non‐Finnish siblings with aspartylglucosaminuria with autofluorescent inclusion bodies on optical coherence tomography, a finding not previously reported in this disorder. We performed a record review,...

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Detalles Bibliográficos
Autores principales: Goodspeed, Kimberly, Harder, Lana, Hughes, Samuel, Conger, Darrel, Taravella, Julia, Gray, Steven J, Minassian, Berge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292186/
https://www.ncbi.nlm.nih.gov/pubmed/30564628
http://dx.doi.org/10.1002/acn3.672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292186/
https://www.ncbi.nlm.nih.gov/pubmed/30564628
http://dx.doi.org/10.1002/acn3.672

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