Article
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Clinical chemistry - 1 Apr 2017
Lin Na, Huang Jingyu, Violante Sara, Orsini Joseph J, Caggana Michele, Hughes Erin E, Stevens Colleen, DiAntonio Lisa, Chieh Liao Hsuan, Hong Xinying, Ghomashchi Farideh, Babu Kumar Arun, Zhou Hui, Kornreich Ruth, Wasserstein Melissa, Gelb Michael H, Yu Chunli
Abstract excerpt
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 form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and...
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