- Tytuł:
- Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
- Autorzy:
- Źródło:
- Disease markers [Dis Markers] 2019 Feb 07; Vol. 2019, pp. 2984747. Date of Electronic Publication: 2019 Feb 07 (Print Publication: 2019).
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Acyl-CoA Dehydrogenase, Long-Chain/*deficiency
Cardiomyopathies/*blood
Fatty Acids/*metabolism
Lipid Metabolism, Inborn Errors/*blood
Mass Spectrometry/*methods
MitochondrialDiseases /*blood
Mitochondrial Myopathies/*blood
Mitochondrial Trifunctional Protein/*deficiency
Molecular Diagnostic Techniques/*methods
Monocytes/*chemistryMuscular Diseases /*bloodNervous System Diseases /*blood
Rhabdomyolysis/*blood
Acyl-CoA Dehydrogenase, Long-Chain/blood ; Adult ; Biomarkers/blood ; Carnitine/analogs & derivatives ; Carnitine/chemistry ; Carnitine O-Palmitoyltransferase/deficiency ; Congenital Bone Marrow Failure Syndromes ; Deuterium/chemistry ; Humans ; Infant ; Mitochondrial Trifunctional Protein/blood ; Monocytes/metabolism ; Oxidation-Reduction - SCR Disease Name:
- Trifunctional Protein Deficiency With Myopathy And Neuropathy; VLCAD deficiency
Czasopismo naukowe