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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Main Authors: Galina V. Baydakova (Author), Polina G. Tsygankova (Author), Natalia L. Pechatnikova (Author), Olga A. Bazhanova (Author), Yana D. Nazarenko (Author), Ekaterina Y. Zakharova (Author)
Format: Book
Published: MDPI AG, 2023-08-01T00:00:00Z.
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3rd Floor Main Library

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