Alfa-mannosidosis: Frequent Symptoms in Rare Patient

Alfa-mannosidosis: Frequent Symptoms in Rare Patient

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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Main Authors: Nato D. Vashakmadze (Author), Natalia V. Zhurkova (Author), Ludmila K. Mikhaylova (Author), Marina A. Babaykina (Author), Maria S. Karaseva (Author), Kristina V. Pashkova (Author), Ekaterina Yu. Zakharova (Author), Leyla S. Namazova-Baranova (Author)
Format: Book
Published: "Paediatrician" Publishers LLC, 2023-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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