Determination of Acid α-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other Lysosomal Storage Disorders - Concepedia

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Publication | Open Access

Determination of Acid α-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other Lysosomal Storage Disorders

DOI Full Paper Access

61

Citations

22

References

2000

Year

Kandiah Umapathysivam, Alison M. Whittle, Enzo Ranieri, Colleen Bindloss, Elaine M. Ravenscroft, Otto P. van Diggelen, John J. Hopwood, Peter J. Meikle

Clinical Chemistry

Abstract

This study demonstrates that it is possible to screen for Pompe disease by screening the concentration of total acid alpha-glucosidase in plasma or dried blood spots.

References

	Year	Citations

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