Alpha-Mannosidosis: Therapeutic Strategies

Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level....

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Detalles Bibliográficos
Autores principales: Ceccarini, Maria Rachele, Codini, Michela, Conte, Carmela, Patria, Federica, Cataldi, Samuela, Bertelli, Matteo, Albi, Elisabetta, Beccari, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983820/
https://www.ncbi.nlm.nih.gov/pubmed/29772816
http://dx.doi.org/10.3390/ijms19051500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983820/
https://www.ncbi.nlm.nih.gov/pubmed/29772816
http://dx.doi.org/10.3390/ijms19051500

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