Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Frédéric M. Vaz(Netherlands Metabolomics Centre), Hidde H. Huidekoper(Amsterdam UMC Location University of Amsterdam), Walter van der Zee(PerkinElmer (Finland)), Aad Verrips(Canisius-Wilhelmina Ziekenhuis), Albert H. Bootsma(Emma Kinderziekenhuis), Gajja S. Salomons(Amsterdam Neuroscience), Ron A. Wevers(Radboud University Nijmegen), Youssra Jamal(Emma Kinderziekenhuis), Michael H. Gelb(University of Washington), Nick Kleise(PerkinElmer (Finland)), Marelle J. Bouva(National Institute for Public Health and the Environment), Andrea E. DeBarber(Oregon Health & Science University), Tao He(Shanghai University of Engineering Science), Rob Barto(Emma Kinderziekenhuis), Marcel Nelen(Utrecht University)
Cited by 21
Related Papers
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
|Science|1993|1.6k
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
|Nature Medicine|2014|843
Localization of the gene for Cowden disease to chromosome 10q22–23
|Nature Genetics|1996|670