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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society for Biochemistry and Molecular Biology 2014
Konular:
Patient-Oriented and Epidemiological Research
Online Erişim: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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