Abstract
Alpha-mannosidosis is a rare autosomal recessive hereditary disease from the group of lysosomal storage diseases with diverse clinical manifestations, the most typical of which are neurodegenerative process, hearing loss, skeletal deformities and immunodeficiency. The only radical treatment for this disease currently is allogeneic hematopoietic stem cell transplantation (allo-HSCT). Successfully performed allo-HSCT not only allows stoppage of the disease progression, but also leads to partial improvement in previously developed complications. The Article provides general information on the disease and demonstrates the Authors’ own experience of performing allo-HSCT in a patient with alpha-mannosidosis as well.
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