Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots
Xinying Hong, Jessica Daiker, Martin Sadı́lek, Andrea E. DeBarber, John Chiang, Jie Duan, Albert H. Bootsma, Hidde H. Huidekoper, Frédéric M. Vaz, Michael H. Gelb
Topics & Concepts
Cerebrotendinous XanthomatosisDried bloodNewborn screeningMedicineBiomarkerSpotsPediatricsInternal medicinePathologyChemistryChromatographyCholesterolBiochemistryCholesterol and Lipid MetabolismFatty Acid Research and HealthPeroxisome Proliferator-Activated Receptors