Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.

Xinying HongJessica DaikerMartin SadilekNicole Ruiz-SchultzArun Babu KumarStevie NorcrossWarunee DansithongTeryn SuhrMaria L EscolarC Ronald ScottAndreas RohrwasserMichael H Gelb

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Our study demonstrates that newborn screening for MLD is highly feasible in a real-world scenario with near 100% assay specificity.

Keyphrases

structural basis

single cell