Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Xinying Hong, Jessica Daiker, Martin Sadı́lek, Nicole Ruiz-Schultz, Arun Kumar, Stevie Norcross, Warunee Dansithong, Teryn Suhr, Maria L. Escolar, C. Ronald Scott, Andreas Rohrwasser, Michael H. Gelb
Topics & Concepts
Metachromatic leukodystrophyArylsulfatase ANewborn screeningDried bloodMedicineDried blood spotLysosomal storage diseaseFalse positive paradoxLeukodystrophyTandem mass spectrometryInternal medicinePediatricsPathologyChromatographyDiseaseMass spectrometryChemistryMachine learningComputer scienceLysosomal Storage Disorders ResearchNeonatal Health and BiochemistryInfant Nutrition and Health