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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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Autors principals: Hendriksz, C.J., Harmatz, P., Beck, M., Jones, S., Wood, T., Lachman, R., Gravance, C.G., Orii, T., Tomatsu, S.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia: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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