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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Detalles Bibliográficos
Autores principales: Baydakova, Galina V., Tsygankova, Polina G., Pechatnikova, Natalia L., Bazhanova, Olga A., Nazarenko, Yana D., Zakharova, Ekaterina Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531771/
https://www.ncbi.nlm.nih.gov/pubmed/37754774
http://dx.doi.org/10.3390/ijns9030048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531771/
https://www.ncbi.nlm.nih.gov/pubmed/37754774
http://dx.doi.org/10.3390/ijns9030048

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