Brivet, M <br/><br/>
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.  [electronic resource] 

 -  Journal of inherited metabolic disease  1996 
 - 181-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1007/BF01799424  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acylation<br/>Carnitine--analysis<br/>Carnitine Acyltransferases--deficiency<br/>Carnitine O-Palmitoyltransferase--metabolism<br/>Female<br/>Fibroblasts--enzymology<br/>Humans<br/>Infant<br/>Intracellular Membranes--metabolism<br/>Lymphocytes--enzymology<br/>Male<br/>Mitochondria--metabolism<br/>Retrospective Studies