Dey, Runu <br/><br/>
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.  [electronic resource] 

 -  Annals of neurology  Feb 2003 
 - 273-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0364-5134 
<br/><br/><label>Standard No.: </label>10.1002/ana.10478  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Lactic--congenital<br/>Female<br/>Gene Deletion<br/>Humans<br/>Infant, Newborn<br/>Infant, Newborn, Diseases--enzymology<br/>Polymorphism, Restriction Fragment Length<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex--genetics