Delayed diagnosis of mild mucopolysaccharidosis type IVA
Abstract Background Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic variants in the N-acetylgalactosamine-6-sulfatase (GALNS) gene and is characterized by progressive and multi-system involvements, dominantly with skeletal deformities. A mild form of MPS IVA of...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2024-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |