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
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author Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
author_facet Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
author_sort Ullal, Anirudh J.
collection PubMed
description 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 manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modified microtiter plate-based enzyme activity assay using dried blood spots and a fluorescent substrate for measuring specific GALNS activity to identify patients with MPS IVA.
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spelling pubmed-51213582016-11-28 Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots Ullal, Anirudh J. Millington, David S. Bali, Deeksha S. Mol Genet Metab Rep Short Communication 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 manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modified microtiter plate-based enzyme activity assay using dried blood spots and a fluorescent substrate for measuring specific GALNS activity to identify patients with MPS IVA. Elsevier 2014-10-22 /pmc/articles/PMC5121358/ /pubmed/27896123 http://dx.doi.org/10.1016/j.ymgmr.2014.10.004 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Ullal, Anirudh J.
Millington, David S.
Bali, Deeksha S.
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title_full Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title_fullStr Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title_full_unstemmed Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title_short Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots
title_sort development of a fluorometric microtiter plate based enzyme assay for mps iva (morquio type a) using dried blood spots
topic Short Communication
url 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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