Development of a Bile Acid-Based Newborn Screen for Niemann-Pick C Disease

Niemann-Pick disease type C (NPC) is a fatal, neurodegenerative, cholesterol storage disorder. With new therapeutics in clinical trials, it is imperative to improve diagnostics and facilitate early intervention. We used metabolomic profiling to identify potential markers and discovered three unknown...

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Detalhes bibliográficos
Publicado no:Sci Transl Med
Main Authors: Jiang, Xuntian, Sidhu, Rohini, Mydock, Laurel, Hsu, Fong-Fu, Covey, Douglas F., Scherrer, David E., Earley, Brian, Gale, Sarah E., Farhat, Nicole Y., Porter, Forbes D., Dietzen, Dennis J., Orsini, Joseph J., Berry-Kravis, Elizabeth, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E., Ory, Daniel S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5316294/
https://ncbi.nlm.nih.gov/pubmed/27147587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aaf2326
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