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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Ullal, Anirudh J., Millington, David S., Bali, Deeksha S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2014
Pynciau:
Short Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121358/
https://ncbi.nlm.nih.gov/pubmed/27896123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.10.004
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