Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

"Declaration of Competing Interest: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper."

"This work was supported by ZonMw, project “Validation of a newborn screening method for Cerebrotendinous Xanthomatosis”, number 543002008. We would like to thank the Radboud Genome Technology Center (RGTC) for helping with DBS DNA purifications and subsequent whole-exome sequencing. RGTC is part of the Netherlands Xomics Initiative and partially funded by NWO (The Netherlands Organization for Scientific Research; project 184.034.019). We are grateful to Travere Therapeutics for providing GlcA-tetrol and 2H6-GlcA-tetrol internal standard. CRediT authorship contribution statement: FrédéricM. Vaz: Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing. Youssra Jamal: Formal analysis, Investigation, Methodology, Writing – review & editing. Rob Barto: Investigation, Methodology, Writing – review & editing. Michael H. Gelb: Writing – review & editing. Andrea E. DeBarber: Writing – review & editing. Ron A. Wevers: Funding acquisition, Writing – review & editing. Marcel R. Nelen: Formal analysis, Methodology, Writing – review & editing. Aad Verrips: Funding acquisition, Writing – original draft, Writing – review & editing. Albert H. Bootsma: Investigation, Methodology, Writing – review & editing. Marelle J. Bouva: Funding acquisition, Methodology, Writing – review & editing. Nick Kleise: Writing – review & editing. Walter van der Zee: Writing – review & editing. Tao He: Writing – review & editing. Gajja S. Salomons: Supervision, Writing – review & editing. Hidde H. Huidekoper: Conceptualization, Formal analysis, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing."