Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano, Mercedes

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