Add to ORKGThe analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the quantitative analysis of short and medium-chain acylglycines as their bis(trifluoromethyl)benzyl (BTFMB) ester derivatives is described. The diagnostic usefulness of the method was demonstrated in nine patients with medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, and seven patients with multiple acyl-CoA dehydrogenation defect (MAD). The urinary acylglycine profiles in these patients were compared to those in controls (n = 19), children on a medium-chain triglyceride (MCT) s...
Comprehensive two-dimensional gas chromatography (GC × GC) time-of-flight mass spectrometry (ToFMS) ...
Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes includi...
We describe a method for the diagnosis of mitochondrial fatty acid oxidation disorders that is based...
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorde...
The analysis of urinary acylglycines is an important biochemical tool for the diagnosis of many orga...
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism, w...
Acyl glycines are normally minor metabolites of fatty acids; however, the excretion of certain acyl ...
We analyzed the urinary acylglycine excretion in 26 patients with mitochondrial energy metabolism di...
Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of ...
Background: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for ne...
International audienceMitochondrial fatty acid oxidation is a vital biochemical process for energy m...
Acylglycines are an important class of metabolites that have been used in the diagnosis of several i...
The analysis of circulating free carnitine and acyl-carnitines provides a powerful selective screeni...
Mitochondrial fatty acid (FA) oxidation deficiencies represent a genetically heterogeneous group of ...
A gas chromatography-mass spectrometry (GC-MS) method is described for the quantification of guanidi...
Comprehensive two-dimensional gas chromatography (GC × GC) time-of-flight mass spectrometry (ToFMS) ...
Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes includi...
We describe a method for the diagnosis of mitochondrial fatty acid oxidation disorders that is based...
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorde...
The analysis of urinary acylglycines is an important biochemical tool for the diagnosis of many orga...
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism, w...
Acyl glycines are normally minor metabolites of fatty acids; however, the excretion of certain acyl ...
We analyzed the urinary acylglycine excretion in 26 patients with mitochondrial energy metabolism di...
Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of ...
Background: Several acylcarnitines used as primary markers on dried blood filter papers (DBS) for ne...
International audienceMitochondrial fatty acid oxidation is a vital biochemical process for energy m...
Acylglycines are an important class of metabolites that have been used in the diagnosis of several i...
The analysis of circulating free carnitine and acyl-carnitines provides a powerful selective screeni...
Mitochondrial fatty acid (FA) oxidation deficiencies represent a genetically heterogeneous group of ...
A gas chromatography-mass spectrometry (GC-MS) method is described for the quantification of guanidi...
Comprehensive two-dimensional gas chromatography (GC × GC) time-of-flight mass spectrometry (ToFMS) ...
Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes includi...
We describe a method for the diagnosis of mitochondrial fatty acid oxidation disorders that is based...