De Meirleir, L <br/><br/>
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.  [electronic resource] 

 -  Pediatric neurology   
 - 216-20 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0887-8994 
<br/><br/><label>Standard No.: </label>10.1016/0887-8994(93)90088-t  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--abnormalities<br/>Chromosome Mapping<br/>Female<br/>Humans<br/>Infant, Newborn<br/>Lactates--cerebrospinal fluid<br/>Lactic Acid<br/>Liver--pathology<br/>Magnetic Resonance Imaging<br/>Microbodies--ultrastructure<br/>Microscopy, Electron<br/>Muscles--pathology<br/>Neurologic Examination<br/>Pyruvate Dehydrogenase (Lipoamide)<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis<br/>Pyruvates--cerebrospinal fluid<br/>Pyruvic Acid