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Your search keyword '"Pamula VK"' showing total 2 results
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2 results on '"Pamula VK"'

1. Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

Author

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Bali D, Millington DS, and Pamula VK

Subjects
Enzyme Assays, Gaucher Disease blood, Glucosylceramidase blood, Humans, Iduronidase blood, Infant, Newborn, Microfluidics, Mucopolysaccharidosis I blood, Neonatal Screening, Dried Blood Spot Testing methods, Gaucher Disease diagnosis, Mucopolysaccharidosis I diagnosis
Abstract

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., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Published
2013
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2. A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Author

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, and Bali DS

Subjects
Fluorometry methods, Humans, Iduronate Sulfatase genetics, Microfluidic Analytical Techniques, Mucopolysaccharidosis II blood, Mucopolysaccharidosis II enzymology, Dried Blood Spot Testing, Enzyme Assays methods, Iduronate Sulfatase blood, Mucopolysaccharidosis II diagnosis
Abstract

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., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Published
2012
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