Liquid Chromatography–Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease - Concepedia

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Liquid Chromatography–Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

DOI Full Paper Access

28

Citations

25

References

2017

Year

Na Lin, Jingyu Huang, Sara Violante, Joseph J. Orsini, Michele Caggana, Erin E. Hughes, Colleen F. Stevens, Lisa DiAntonio, Hsuan-Chieh Liao, Xinying Hong,

Clinical Chemistry

Abstract

This assay allows determination of low residual GAA activity in leukocytes. IOPD, LOPD, and pseudodeficiency patients can be partially differentiated by measuring GAA using blood samples.

References

	Year	Citations

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