Impact of Enzyme Replacement Therapy in a Patient Younger Than 2 Years Diagnosed With Maroteaux-Lamy Syndrome (MPS VI)
Abstract Introduction: Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome (#OMIM 253200), is a rare autosomal recessive genetic disorder due to deficient activity of the enzyme N-acetylgalactosamine 4-sulfatase (arylsulfatase B) required for the breakdown of dermatan sulfate and ch...
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| Format: | article |
| Language: | eng |
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2017
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100307 |
| Country: | Brazil |
| Oai: | oai:scielo:S2326-45942017000100307 |