A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. [electronic resource]
Producer: 20040707Description: 103-13 p. digitalISSN:- 0009-8981
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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