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...
| Hauptverfasser: | , , , , , |
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| Format: | Artikel |
| Sprache: | English |
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MDPI AG
2023-08-01
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| Schriftenreihe: | International Journal of Neonatal Screening |
| Schlagworte: | |
| Online Zugang: | https://www.mdpi.com/2409-515X/9/3/48 |