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Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that ma...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121358/ https://www.ncbi.nlm.nih.gov/pubmed/27896123 http://dx.doi.org/10.1016/j.ymgmr.2014.10.004 |