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...

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Detalles Bibliográficos
Autores principales: Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
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

Internet

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

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