The diagnosis and management of mucopolysaccharidosis type II
Abstract Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influenc...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2024-10-01T00:00:00Z.
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