NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls. [electronic resource]
Producer: 20190225Description: 6320 p. digitalISSN:- 2045-2322
- 1-Deoxynojirimycin -- analogs & derivatives
- Adolescent
- Adult
- Biomarkers -- blood
- Case-Control Studies
- Child
- Child, Preschool
- Female
- Heterozygote
- Humans
- Infant
- Isoleucine -- blood
- Male
- Metabolomics -- methods
- Niemann-Pick Disease, Type C -- drug therapy
- Proton Magnetic Resonance Spectroscopy
- Triglycerides -- blood
- Young Adult
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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