Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. [electronic resource]
- Movement disorders : official journal of the Movement Disorder Society Sep 2012
- 1295-8 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1531-8257
10.1002/mds.25008 doi
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