TY  - GEN
AU  - Probert,Fay
AU  - Ruiz-Rodado,Victor
AU  - Vruchte,Danielle Te
AU  - Nicoli,Elena-Raluca
AU  - Claridge,Tim D W
AU  - Wassif,Christopher A
AU  - Farhat,Nicole
AU  - Porter,Forbes D
AU  - Platt,Frances M
AU  - Grootveld,Martin
TI  - NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
SN  - 2045-2322
PY  - 2019///0225
KW  - 1-Deoxynojirimycin
KW  - analogs & derivatives
KW  - Adolescent
KW  - Adult
KW  - Biomarkers
KW  - blood
KW  - Case-Control Studies
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Isoleucine
KW  - Male
KW  - Metabolomics
KW  - methods
KW  - Niemann-Pick Disease, Type C
KW  - drug therapy
KW  - Proton Magnetic Resonance Spectroscopy
KW  - Triglycerides
KW  - Young Adult
N1  - Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41598-017-06264-2
ER  -