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Highlights on Genomics Applications for Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome. Although the cellular pathogenesis of LSDs is complex and still not ful...

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Detalles Bibliográficos
Autores principales: La Cognata, Valentina, Guarnaccia, Maria, Polizzi, Agata, Ruggieri, Martino, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465195/
https://www.ncbi.nlm.nih.gov/pubmed/32824006
http://dx.doi.org/10.3390/cells9081902