Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.

Xinying HongJessica DaikerMartin SadilekAndrea E DeBarberJohn ChiangJie DuanAlbert H BootsmaHidde H HuidekoperFrédéric M VazMichael H Gelb

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

The results indicate that both GlcA-tetrol and the GlcA-tetrol/t-CDCA ratio are excellent CTX biomarkers suitable for newborn screening. By characterizing the relationship of GlcA-tetrol, t-CDCA, and t-THCA as secondary markers, 100% assay specificity can be achieved.

Keyphrases

high throughput
structural basis