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

BACKGROUND: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset...

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Foilsithe in:Clin Chem
Main Authors: Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J., Caggana, Michele, Hughes, Erin E., Stevens, Colleen, DiAntonio, Lisa, Liao, Hsuan Chieh, Hong, Xinying, Ghomashchi, Farideh, Kumar, Arun Babu, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H., Yu, Chunli
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2017
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413112/
https://ncbi.nlm.nih.gov/pubmed/28196920
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2016.259036
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