A Distinctive Metabolomics Profile and Potential Biomarkers for Very Long Acylcarnitine Dehydrogenase Deficiency (VLCADD) Diagnosis in Newborns

Very long-chain acylcarnitine dehydrogenase deficiency (VLCADD) is a rare inherited metabolic disorder associated with fatty acid β-oxidation and characterized by genetic mutations in the ACADVL gene and accumulations of acylcarnitines. VLCADD, developed in neonates or later adults, can be diagnosed...

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Detalles Bibliográficos
Autores principales: Sebaa, Rajaa, AlMalki, Reem H., Alseraty, Wafaa, Abdel Rahman, Anas M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301765/
https://www.ncbi.nlm.nih.gov/pubmed/37367883
http://dx.doi.org/10.3390/metabo13060725

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10301765/
https://www.ncbi.nlm.nih.gov/pubmed/37367883
http://dx.doi.org/10.3390/metabo13060725

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