Longo, N <br/><br/>
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.  [electronic resource] 

 -  Journal of inherited metabolic disease  2004 
 - 691-2 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1023/b:boli.0000043023.57321.18  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis--genetics<br/>Child, Preschool<br/>Coenzyme A-Transferases--deficiency<br/>Consanguinity<br/>Dialysis<br/>Female<br/>Homozygote<br/>Humans<br/>Mutation<br/>Time Factors