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    Alfa-mannosidosis: Frequent Symptoms in Rare Patient

    Alfa-mannosidosis: Frequent Symptoms in Rare Patient by Nato D. Vashakmadze, Natalia V. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, Maria S. Karaseva, Kristina V. Pashkova, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

    Published 2023-01-01

    Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation....

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