Janzen, Nils

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