Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. [electronic resource]
Producer: 20130214Description: 1295-8 p. digitalISSN:- 1531-8257
- Adolescent
- Alanine -- analogs & derivatives
- Basal Ganglia -- metabolism
- Basal Ganglia Diseases -- complications
- Child, Preschool
- Choline -- metabolism
- Dystonic Disorders -- etiology
- Female
- Humans
- Magnetic Resonance Imaging
- Magnetic Resonance Spectroscopy
- Male
- Membrane Transport Proteins -- deficiency
- Siblings
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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