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A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because an effective oral therapy for CTX is available to...

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Detalhes bibliográficos
Main Authors: DeBarber, Andrea E., Luo, Jenny, Star-Weinstock, Michal, Purkayastha, Subhasish, Geraghty, Michael T., Chiang, John (Pei-Wen), Merkens, Louise S., Pappu, Anuradha S., Steiner, Robert D.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3927472/
https://ncbi.nlm.nih.gov/pubmed/24186955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P043273
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