Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. [electronic resource]
Producer: 20080731Description: 20-3 p. digitalISSN:- 0174-304X
- Ataxia -- diagnosis
- Basal Ganglia Diseases -- etiology
- Binding Sites -- genetics
- Brain Diseases, Metabolic -- etiology
- Child
- Child, Preschool
- Diagnosis, Differential
- Dystonia -- etiology
- Fatal Outcome
- Humans
- Infant
- Lactic Acid -- blood
- Male
- Movement Disorders -- etiology
- Muscle Weakness -- etiology
- Mutation
- Pyruvate Dehydrogenase (Lipoamide) -- genetics
- Pyruvate Dehydrogenase Complex -- genetics
- Pyruvate Dehydrogenase Complex Deficiency Disease -- complications
- Thiamine Pyrophosphate -- metabolism
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Publication Type: Case Reports; Journal Article
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