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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

Authors :
Burrage, Lindsay C.
Thistlethwaite, Lillian
Stroup, Bridget M.
Sun, Qin
Miller, Marcus J.
Nagamani, Sandesh C.S.
Craigen, William
Scaglia, Fernando
Sutton, V. Reid
Graham, Brett
Kennedy, Adam D.
Milosavljevic, Aleksandar
Lee, Brendan H.
Elsea, Sarah H.
Source :
Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p1977-1986, 10p
Publication Year :
2019

Abstract

Untargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management of urea cycle disorders (UCDs).

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
21
Issue :
9
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs60207850
Full Text :
https://doi.org/10.1038/s41436-019-0442-0