New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorde...
| Auteurs principaux: | , , , , , |
|---|---|
| Format: | Article |
| Langue: | English |
| Publié: |
MDPI AG
2023-08-01
|
| Collection: | International Journal of Neonatal Screening |
| Sujets: | |
| Accès en ligne: | https://www.mdpi.com/2409-515X/9/3/48 |