Matthews, P M <br/><br/>
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.  [electronic resource] 

 -  Brain : a journal of neurology  Jun 1994 
 - 435-43 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0006-8950 
<br/><br/><label>Standard No.: </label>10.1093/brain/117.3.435  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Female<br/>Gene Expression Regulation, Enzymologic<br/>Genetic Linkage<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--genetics<br/>X Chromosome