Debray, F-G <br/><br/>
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.  [electronic resource] 

 -  Neuropediatrics  Feb 2008 
 - 20-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0174-304X 
<br/><br/><label>Standard No.: </label>10.1055/s-2008-1077084  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ataxia--diagnosis<br/>Basal Ganglia Diseases--etiology<br/>Binding Sites--genetics<br/>Brain Diseases, Metabolic--etiology<br/>Child<br/>Child, Preschool<br/>Diagnosis, Differential<br/>Dystonia--etiology<br/>Fatal Outcome<br/>Humans<br/>Infant<br/>Lactic Acid--blood<br/>Male<br/>Movement Disorders--etiology<br/>Muscle Weakness--etiology<br/>Mutation<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--complications<br/>Thiamine Pyrophosphate--metabolism