A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed...

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Bibliographic Details
Published in:J Lipid Res
Main Authors: Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.
Format: Artigo
Language:Inglês
Published: The American Society for Biochemistry and Molecular Biology 2017
Subjects:
Patient-Oriented and Epidemiological Research
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5408618/
https://ncbi.nlm.nih.gov/pubmed/28314860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P075051
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