Search Results - "Cullen, Emmaline"

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes

    The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes by 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)
    “…Fluorometric and tandem mass spectrometry assays can be used to measure lysosomal enzyme activities in dried blood spots (DBS). The effect of DBS preparation,…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  2. 2
    Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay

    Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay by 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)
    “…Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  3. 3
    An improved high-throughput dried blood spot screening method for Gaucher disease

    An improved high-throughput dried blood spot screening method for Gaucher disease by Olivova, Petra, Cullen, Emmaline, Titlow, Mariah, Kallwass, Helmut, Barranger, John, Zhang, Kate, Keutzer, Joan

    Published in Clinica chimica acta (01-12-2008)
    Get full text
    Journal Article
    Save to List
    Saved in:
  4. 4
    Prognostic utility of rapid leucocyte-based assay of α-glucosidase cross-reactive immunological material (CRIM) patterns in patients with Pompe disease

    Prognostic utility of rapid leucocyte-based assay of α-glucosidase cross-reactive immunological material (CRIM) patterns in patients with Pompe disease by 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)
    Get full text
    Journal Article
    Save to List
    Saved in:
  5. 5
    Effect of sample collection on α-galactosidase A enzyme activity measurements in dried blood spots on filter paper

    Effect of sample collection on α-galactosidase A enzyme activity measurements in dried blood spots on filter paper by 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)
    “…Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha galactosidase A (AGAL, EC 3.2.1.22). Despite increasing utilization of dried…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  6. 6
    17. Biological variation and sample collection effects on α-galactosidase A enzyme measurements in Fabry and non-Fabry populations

    17. Biological variation and sample collection effects on α-galactosidase A enzyme measurements in Fabry and non-Fabry populations by 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)
    Get full text
    Journal Article
    Save to List
    Saved in:

Search Tools: