We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
- Authors
Xuntian Jiang; Sidhu, Rohini; Mydock-McGrane, Laurel; Fong-Fu Hsu; 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; Xiaokui Zhang; Reunert, Janice; Marquardt, Thorsten; Runz, Heiko; Giugliani, Roberto; Schaffer, Jean E.; Ory, Daniel S.
- Abstract
The article offers information on a study which aims to develop a bile acid-based newborn screen for Niemann-Pick disease type C (NPC), a fatal, neurodegenerative, cholesterol storage disorder. It discussses the need to improve diagnostics and facilitate early intervention as well as the application of metabolomic profiling to identify potential markers and to determine three unknown bile acids.
- Subjects
NIEMANN-Pick diseases; NON-langerhans-cell histiocytosis; SPHINGOLIPIDOSES; BILE acids
- Publication
Science Translational Medicine, 2016, Vol 8, Issue 337, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aaf2326