Recent developments in the analytical approaches of acyl-CoAs to assess their role in mitochondrial fatty acid oxidation disorders

Fatty acid oxidation disorders (FAOD) are inborn errors of metabolism that occur due to deficiency of specific enzyme activities and transporter proteins involved in the mitochondrial metabolism of fatty acids, causing a deficiency in ATP production. The identification of suitable biomarkers plays a...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Singh, Madhulika [verfasserIn]

Elfrink, Hyung L. [verfasserIn]

Harms, Amy C. [verfasserIn]

Hankemeier, Thomas [verfasserIn]

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2023

Schlagwörter:

Acyl-CoA

Fatty acid oxidation disorders

Newborn screening

LC-MS

Biomarkers

SILEC

Übergeordnetes Werk:

Enthalten in: Molecular genetics and metabolism - Orlando, Fla. : Academic Press, 1998, 140

Übergeordnetes Werk:

volume:140

DOI / URN:

10.1016/j.ymgme.2023.107711

Katalog-ID:

ELV065653475

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