Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.
Publication
, Journal Article
Ullal, AJ; Millington, DS; Bali, DS
Published in: Mol Genet Metab Rep
2014
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.
Duke Scholars
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
2014
Volume
1
Start / End Page
461 / 464
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology
Citation
APA
Chicago
ICMJE
MLA
NLM
Ullal, A. J., Millington, D. S., & Bali, D. S. (2014). Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots. Mol Genet Metab Rep, 1, 461–464. https://doi.org/10.1016/j.ymgmr.2014.10.004
Ullal, Anirudh J., David S. Millington, and Deeksha S. Bali. “Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.” Mol Genet Metab Rep 1 (2014): 461–64. https://doi.org/10.1016/j.ymgmr.2014.10.004.
Ullal AJ, Millington DS, Bali DS. Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots. Mol Genet Metab Rep. 2014;1:461–4.
Ullal, Anirudh J., et al. “Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.” Mol Genet Metab Rep, vol. 1, 2014, pp. 461–64. Pubmed, doi:10.1016/j.ymgmr.2014.10.004.
Ullal AJ, Millington DS, Bali DS. Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots. Mol Genet Metab Rep. 2014;1:461–464.
Published In
Mol Genet Metab Rep
DOI
ISSN
2214-4269
Publication Date
2014
Volume
1
Start / End Page
461 / 464
Location
United States
Related Subject Headings
- 3202 Clinical sciences
- 3105 Genetics
- 0604 Genetics
- 0601 Biochemistry and Cell Biology