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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,...

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Detalles Bibliográficos
Autores principales:	Marenco, Marco, Segatto, Marco, Sacchetti, Marta, Mangiantini, Pietro, Giovannetti, Francesca, Plateroti, Rocco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
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

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