Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis. [electronic resource]
- Orphanet journal of rare diseases 12 2017
- 187 p. digital
Publication Type: Journal Article
1750-1172
10.1186/s13023-017-0737-7 doi
Acyl-CoA Dehydrogenase--metabolism Adolescent Analysis of Variance Carnitine--analogs & derivatives Child Child, Preschool Fatty Acids--metabolism Female Humans Infant Infant, Newborn Lipid Metabolism, Inborn Errors--diagnosis Male Neonatal Screening--methods Palmitates--metabolism Reproducibility of Results Tandem Mass Spectrometry