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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Sci Transl Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge