The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes
Elbin, Carole S., Olivova, Petra, Marashio, Carla A., Cooper, Samantha K., Cullen, Emmaline, Keutzer, Joan M., Zhang, X. Kate
Published in Clinica chimica acta (11.06.2011)
Published in Clinica chimica acta (11.06.2011)
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Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
Wolf, Pavlina, Alcalay, Roy N., Liong, Christopher, Cullen, Emmaline, Pauciulo, Michael W., Nichols, William C., Gan-Or, Ziv, Chung, Wendy K., Faulkner, Tina, Bentis, Christopher, Pomponio, Robert J., Ma, Xiwen, Kate Zhang, X., Keutzer, Joan M., Oliva, Petra
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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An improved high-throughput dried blood spot screening method for Gaucher disease
Olivova, Petra, Cullen, Emmaline, Titlow, Mariah, Kallwass, Helmut, Barranger, John, Zhang, Kate, Keutzer, Joan
Published in Clinica chimica acta (01.12.2008)
Published in Clinica chimica acta (01.12.2008)
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Prognostic utility of rapid leucocyte-based assay of α-glucosidase cross-reactive immunological material (CRIM) patterns in patients with Pompe disease
Harvey, Katie, Davison, James, Broomfield, Alex, Cullen, Emmaline, Burke, Derek, Prunty, Helen, Cleary, Maureen, Church, Heather, Tylee, Karen, Heales, Simon
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Effect of sample collection on α-galactosidase A enzyme activity measurements in dried blood spots on filter paper
Olivova, Petra, der Veen, Kristen van, Cullen, Emmaline, Rose, Michael, Zhang, X. Kate, Sims, Katherine B., Keutzer, Joan, Browning, Marsha F.
Published in Clinica chimica acta (01.05.2009)
Published in Clinica chimica acta (01.05.2009)
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17. Biological variation and sample collection effects on α-galactosidase A enzyme measurements in Fabry and non-Fabry populations
Browning, Marsha, Olivova, Petra, van der Veen, Kristen, Zhang, X. Kate, Cullen, Emmaline, Rose, Michael, Sims, Katherine, Keutzer, Joan
Published in Molecular genetics and metabolism (01.02.2009)
Published in Molecular genetics and metabolism (01.02.2009)
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