Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. [electronic resource]
Producer: 20170905Description: e0176363 p. digitalISSN:- 1932-6203
- Aconitate Hydratase -- deficiency
- Aconitic Acid -- blood
- Adolescent
- Biomarkers -- blood
- Child
- Child, Preschool
- Female
- Heredodegenerative Disorders, Nervous System -- blood
- Humans
- Hydroxybutyrates -- blood
- Isocitrates -- blood
- Ketoglutaric Acids -- blood
- Male
- Metabolomics -- methods
- Phosphoenolpyruvate -- blood
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Publication Type: Journal Article
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