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

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

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
Main Authors: Frédéric M. Vaz, Albert H. Bootsma, Willem Kulik, Aad Verrips, Ron A. Wevers, Peter C. Schielen, Andrea E. DeBarber, Hidde H. Huidekoper
Format: Article
Language:English
Published: Elsevier 2017-05-01
Series:Journal of Lipid Research
Subjects:
bile acid metabolism
bile acids and salts biosynthesis
inborn errors of metabolism
tandem mass spectrometry
CYP27A1
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520338360

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http://www.sciencedirect.com/science/article/pii/S0022227520338360

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