Steller, J <br/><br/>
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).  [electronic resource] 

 -  Neuropediatrics  Feb 2014 
 - 56-60 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1439-1899 
<br/><br/><label>Standard No.: </label>10.1055/s-0033-1341601  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Exons--genetics<br/>Follow-Up Studies<br/>Humans<br/>Male<br/>Mutation<br/>Phenotype<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis