Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous syste...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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"Paediatrician" Publishers LLC,
2020-02-01T00:00:00Z.
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