Abela, Lucia <br/><br/>
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.  [electronic resource] 

 -  PloS one  2017 
 - e0176363 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1932-6203 
<br/><br/><label>Standard No.: </label>10.1371/journal.pone.0176363  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aconitate Hydratase--deficiency<br/>Aconitic Acid--blood<br/>Adolescent<br/>Biomarkers--blood<br/>Child<br/>Child, Preschool<br/>Female<br/>Heredodegenerative Disorders, Nervous System--blood<br/>Humans<br/>Hydroxybutyrates--blood<br/>Isocitrates--blood<br/>Ketoglutaric Acids--blood<br/>Male<br/>Metabolomics--methods<br/>Phosphoenolpyruvate--blood