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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Bibliografiset tiedot
Julkaisussa:J Lipid Res
Päätekijät: Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society for Biochemistry and Molecular Biology 2017
Aiheet:
Patient-Oriented and Epidemiological Research
Linkit: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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