Pyruvate dehydrogenase deficiency in 35 patients.
D000138:Acidosis / Q000235:genetics; D000328:Adult; D001259:Ataxia / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007773:Lactates / Q000097:blood; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates / Q000097:blood; D012189:Retrospective Studies; D013577:Syndrome
D007773:Lactates; D011773:Pyruvates