Toward Newborn Screening of Cerebrotendinous Xanthomatosis: Results of a Biomarker Research Study Using 32,000 Newborn Dried Blood Spots

PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27- hydroxylase, which is encoded by the CYP27A1 gene. Different newborn screening biomarkers for CTX have been described, including 7α,12α-dihydroxy-4-cholesten-3-one ( 7α12αC4 ), 5b-...

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Detalles Bibliográficos
Autores principales: Hong, Xinying, Daiker, Jessica, Sadilek, Martin, DeBarber, Andrea E., Chiang, John, Duan, Jie, Bootsma, Albert H., Huidekoper, Hidde H., Vaz, Frédéric M., Gelb, Michael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529987/
https://www.ncbi.nlm.nih.gov/pubmed/32523054
http://dx.doi.org/10.1038/s41436-020-0846-x

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