Article
Alpha-Mannosidosis: Therapeutic Strategies.
International journal of molecular sciences - 17 May 2018
Ceccarini Maria Rachele, Codini Michela, Conte Carmela, Patria Federica, Cataldi Samuela, Bertelli Matteo, Albi Elisabetta, Beccari Tommaso
Abstract excerpt
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. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in...
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