Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6sulfate) accumulation mainly in the bone an...
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Format: | Book |
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"Paediatrician" Publishers LLC,
2023-01-01T00:00:00Z.
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A1234.567 |
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