A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Publication
, Journal Article
Tolun, AA; Graham, C; Shi, Q; Sista, RS; Wang, T; Eckhardt, AE; Pamula, VK; Millington, DS; Bali, DS
Published in: Mol Genet Metab
March 2012
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS). A convenient single-step fluorometric microplate enzyme assay has been developed and validated for clinical diagnosis of MPS II using dried blood spots (DBS). The assay compared well with a recently reported digital microfluidic method, from which it was adapted. Results show that this DBS assay is robust and reproducible using both technologies.
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Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
March 2012
Volume
105
Issue
3
Start / End Page
519 / 521
Location
United States
Related Subject Headings
- Mucopolysaccharidosis II
- Microfluidic Analytical Techniques
- Iduronate Sulfatase
- Humans
- Genetics & Heredity
- Fluorometry
- Enzyme Assays
- Dried Blood Spot Testing
- 3202 Clinical sciences
- 3105 Genetics
Citation
APA
Chicago
ICMJE
MLA
NLM
Tolun, A. A., Graham, C., Shi, Q., Sista, R. S., Wang, T., Eckhardt, A. E., … Bali, D. S. (2012). A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab, 105(3), 519–521. https://doi.org/10.1016/j.ymgme.2011.12.011
Tolun, Adviye A., Carrie Graham, Qun Shi, Ramakrishna S. Sista, Tong Wang, Allen E. Eckhardt, Vamsee K. Pamula, David S. Millington, and Deeksha S. Bali. “A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.” Mol Genet Metab 105, no. 3 (March 2012): 519–21. https://doi.org/10.1016/j.ymgme.2011.12.011.
Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, et al. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab. 2012 Mar;105(3):519–21.
Tolun, Adviye A., et al. “A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.” Mol Genet Metab, vol. 105, no. 3, Mar. 2012, pp. 519–21. Pubmed, doi:10.1016/j.ymgme.2011.12.011.
Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots. Mol Genet Metab. 2012 Mar;105(3):519–521.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
March 2012
Volume
105
Issue
3
Start / End Page
519 / 521
Location
United States
Related Subject Headings
- Mucopolysaccharidosis II
- Microfluidic Analytical Techniques
- Iduronate Sulfatase
- Humans
- Genetics & Heredity
- Fluorometry
- Enzyme Assays
- Dried Blood Spot Testing
- 3202 Clinical sciences
- 3105 Genetics