TY - GEN AU - Abela,Lucia AU - Spiegel,Ronen AU - Crowther,Lisa M AU - Klein,Andrea AU - Steindl,Katharina AU - Papuc,Sorina Mihaela AU - Joset,Pascal AU - Zehavi,Yoav AU - Rauch,Anita AU - Plecko,Barbara AU - Simmons,Thomas Luke TI - Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency SN - 1932-6203 PY - 2017///0905 KW - Aconitate Hydratase KW - deficiency KW - Aconitic Acid KW - blood KW - Adolescent KW - Biomarkers KW - Child KW - Child, Preschool KW - Female KW - Heredodegenerative Disorders, Nervous System KW - Humans KW - Hydroxybutyrates KW - Isocitrates KW - Ketoglutaric Acids KW - Male KW - Metabolomics KW - methods KW - Phosphoenolpyruvate N1 - Publication Type: Journal Article UR - https://doi.org/10.1371/journal.pone.0176363 ER -