Clinical Outcomes of Children with Abnormal Newborn Screening Results for Krabbe Disease in New York State

Date: December 18, 2017

Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. This open-access publication reviews New York State's experience screening for Krabbe disease.

Wasserstein, M. P., Andriola, M., Arnold, G., Aron, A., Duffner, P., Erbe, R. W., Escolar, M. L., Estrella, L., Galvin-Parton, P., Iglesias, A., Kay, D. M., Kronn, D. F., Kurtzberg, J., Kwon, J. M., Langan, T. J., Levy, P. A., Naidich, T. P., Orsini, J. J., Pellegrino, J. E., Provenzale, J. M., … Caggana, M. (2016). Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 18(12), 1235–1243.