Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Abela, Lucia

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. [electronic resource] - PloS one 2017 - e0176363 p. digital

Publication Type: Journal Article

1932-6203

10.1371/journal.pone.0176363 doi


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