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Retinal hyperreflective foci in Fabry disease

BACKGROUND: Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. METHODS...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Atiskova, Yevgeniya, Rassuli, Rahman, Koehn, Anja Friederike, Golsari, Amir, Wagenfeld, Lars, du Moulin, Marcel, Muschol, Nicole, Dulz, Simon
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6933914/
https://ncbi.nlm.nih.gov/pubmed/31878969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1267-2
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