Young, Sarah P <br/><br/>
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 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0009-8981 
<br/><br/><label>Standard No.: </label>10.1016/j.cccn.2003.07.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyl-CoA Dehydrogenase--antagonists & inhibitors<br/>Butyric Acid--pharmacology<br/>Butyryl-CoA Dehydrogenase--deficiency<br/>Carbon Isotopes--chemistry<br/>Carnitine--analogs & derivatives<br/>DNA Mutational Analysis<br/>Deuterium--chemistry<br/>Fibroblasts--chemistry<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Malonates--urine<br/>Mutation, Missense<br/>Palmitic Acid--pharmacology<br/>Palmitoylcarnitine--analysis<br/>Polymorphism, Genetic<br/>Sensitivity and Specificity<br/>Spectrometry, Mass, Electrospray Ionization<br/>Spiro Compounds--pharmacology