Zhang, Gai Xiu <br/><br/>
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.  [electronic resource] 

 -  Pediatric research  Jul 2004 
 - 60-4 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0031-3998 
<br/><br/><label>Standard No.: </label>10.1203/01.PDR.0000129657.48122.52  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetyl-CoA C-Acyltransferase--deficiency<br/>Acyl Coenzyme A--metabolism<br/>Cell Line, Transformed<br/>Child, Preschool<br/>DNA, Complementary<br/>Enzyme Activation<br/>Fibroblasts--cytology<br/>Humans<br/>Immunoblotting<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Metabolism, Inborn Errors--diagnosis<br/>Mitochondria--enzymology<br/>Point Mutation<br/>Severity of Illness Index