Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
Publication
, Journal Article
Sista, RS; Wang, T; Wu, N; Graham, C; Eckhardt, A; Bali, D; Millington, DS; Pamula, VK
Published in: Mol Genet Metab
June 2013
OBJECTIVE: Easy tool for newborn screening of Gaucher and Hurler diseases. METHODS: Method comparison between fluorometric enzymatic activity assay on a digital microfluidic platform and micro-titer plate bench assay was performed on normal (n = 100), Gaucher (n = 10) and Hurler (n = 7) dried blood spot samples. RESULTS: Enzymatic activity analysis of glucocerebrosidase (Gaucher) and α-l-iduronidase (Hurler) revealed similar discrimination between normal and affected samples on both platforms. CONCLUSIONS: Digital microfluidics is suitable for Gaucher and Hurler newborn screening.
Duke Scholars
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Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
June 2013
Volume
109
Issue
2
Start / End Page
218 / 220
Location
United States
Related Subject Headings
- Neonatal Screening
- Mucopolysaccharidosis I
- Microfluidics
- Infant, Newborn
- Iduronidase
- Humans
- Glucosylceramidase
- Genetics & Heredity
- Gaucher Disease
- Enzyme Assays
Citation
APA
Chicago
ICMJE
MLA
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Sista, R. S., Wang, T., Wu, N., Graham, C., Eckhardt, A., Bali, D., … Pamula, V. K. (2013). Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. Mol Genet Metab, 109(2), 218–220. https://doi.org/10.1016/j.ymgme.2013.03.010
Sista, Ramakrishna S., Tong Wang, Ning Wu, Carrie Graham, Allen Eckhardt, Deeksha Bali, David S. Millington, and Vamsee K. Pamula. “Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.” Mol Genet Metab 109, no. 2 (June 2013): 218–20. https://doi.org/10.1016/j.ymgme.2013.03.010.
Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, et al. Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. Mol Genet Metab. 2013 Jun;109(2):218–20.
Sista, Ramakrishna S., et al. “Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.” Mol Genet Metab, vol. 109, no. 2, June 2013, pp. 218–20. Pubmed, doi:10.1016/j.ymgme.2013.03.010.
Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, Millington DS, Pamula VK. Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. Mol Genet Metab. 2013 Jun;109(2):218–220.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
June 2013
Volume
109
Issue
2
Start / End Page
218 / 220
Location
United States
Related Subject Headings
- Neonatal Screening
- Mucopolysaccharidosis I
- Microfluidics
- Infant, Newborn
- Iduronidase
- Humans
- Glucosylceramidase
- Genetics & Heredity
- Gaucher Disease
- Enzyme Assays