Merinero, B <br/><br/>
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.  [electronic resource] 

 -  Journal of inherited metabolic disease  Oct 2006 
 - 685 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1007/s10545-006-0342-8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases--diagnosis<br/>Butyryl-CoA Dehydrogenase--genetics<br/>Carnitine--analogs & derivatives<br/>Humans<br/>Malonates--urine<br/>Mitochondrial Proteins--genetics<br/>Nervous System Diseases<br/>Nucleocytoplasmic Transport Proteins--genetics