A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
Young, Sarah P
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Nov 2003 - 103-13 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0009-8981
10.1016/j.cccn.2003.07.006 doi
Acyl-CoA Dehydrogenase--antagonists & inhibitors
Butyric Acid--pharmacology
Butyryl-CoA Dehydrogenase--deficiency
Carbon Isotopes--chemistry
Carnitine--analogs & derivatives
DNA Mutational Analysis
Deuterium--chemistry
Fibroblasts--chemistry
Heterozygote
Homozygote
Humans
Malonates--urine
Mutation, Missense
Palmitic Acid--pharmacology
Palmitoylcarnitine--analysis
Polymorphism, Genetic
Sensitivity and Specificity
Spectrometry, Mass, Electrospray Ionization
Spiro Compounds--pharmacology
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Nov 2003 - 103-13 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0009-8981
10.1016/j.cccn.2003.07.006 doi
Acyl-CoA Dehydrogenase--antagonists & inhibitors
Butyric Acid--pharmacology
Butyryl-CoA Dehydrogenase--deficiency
Carbon Isotopes--chemistry
Carnitine--analogs & derivatives
DNA Mutational Analysis
Deuterium--chemistry
Fibroblasts--chemistry
Heterozygote
Homozygote
Humans
Malonates--urine
Mutation, Missense
Palmitic Acid--pharmacology
Palmitoylcarnitine--analysis
Polymorphism, Genetic
Sensitivity and Specificity
Spectrometry, Mass, Electrospray Ionization
Spiro Compounds--pharmacology