New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

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...

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Podrobná bibliografie
Hlavní autoři: Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
Médium: Článek
Jazyk:English
Vydáno: MDPI AG 2023-08-01
Edice:International Journal of Neonatal Screening
Témata:
biochemical marker
inherited metabolic diseases
acylcarnitines
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
<i>HADHA</i>
On-line přístup:https://www.mdpi.com/2409-515X/9/3/48

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https://www.mdpi.com/2409-515X/9/3/48

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