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

BACKGROUND AND AIMS: Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency of 27-sterol hydroxylase -encoded by CYP27A1- leading to gastrointestinal and progressive neuropsychiatric symptoms. Biochemically, CTX is characterized by accumulation of th...

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Detalles Bibliográficos
Autores principales: Vaz, Frédéric M., Jamal, Youssra, Barto, Rob, Gelb, Michael H., DeBarber, Andrea E., Wevers, Ron A., Nelen, Marcel R., Verrips, Aad, Bootsma, Albert H., Bouva, Marelle J., Kleise, Nick, van der Zee, Walter, He, Tao, Salomons, Gajja S., Huidekoper, Hidde H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387442/
https://www.ncbi.nlm.nih.gov/pubmed/36529270
http://dx.doi.org/10.1016/j.cca.2022.12.011

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