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Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA
Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulf...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755102/ https://ncbi.nlm.nih.gov/pubmed/23665161 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.04.002 |
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