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Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients
BACKGROUND: Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and ocular manifestations. The aim of this study is to characterize morphological,...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308246/ https://www.ncbi.nlm.nih.gov/pubmed/35870972 http://dx.doi.org/10.1186/s13023-022-02441-3 |