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.
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.
Authors: Petra Olivova; Emmaline Cullen; Mariah Titlow; Helmut Kallwass; John Barranger; Kate Zhang; Joan Keutzer Journal: Clin Chim Acta Date: 2008-09-09 Impact factor: 3.786
Authors: Thomas P Mechtler; Thomas F Metz; Hannes G Müller; Katharina Ostermann; Rene Ratschmann; Victor R De Jesus; Bori Shushan; Joseph M Di Bussolo; Joseph L Herman; Kurt R Herkner; David C Kasper Journal: J Chromatogr B Analyt Technol Biomed Life Sci Date: 2012-09-24 Impact factor: 3.205
Authors: Peter J Meikle; Dallas J Grasby; Caroline J Dean; Debbie L Lang; Michelle Bockmann; Alison M Whittle; Michael J Fietz; Henrik Simonsen; Maria Fuller; Douglas A Brooks; John J Hopwood Journal: Mol Genet Metab Date: 2006-04-04 Impact factor: 4.797
Authors: Ramakrishna S Sista; Allen E Eckhardt; Tong Wang; Carrie Graham; Jeremy L Rouse; Scott M Norton; Vijay Srinivasan; Michael G Pollack; Adviye A Tolun; Deeksha Bali; David S Millington; Vamsee K Pamula Journal: Clin Chem Date: 2011-08-22 Impact factor: 8.327