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: | , , , , , , , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2023-01-01T00:00:00Z.
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