Fung, Eva Lai-wah <br/><br/>
First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.  [electronic resource] 

 -  Brain & development  Feb 2011 
 - 170-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2010.03.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Asian People--genetics<br/>Blood Glucose--metabolism<br/>Carbohydrate Metabolism, Inborn Errors--diet therapy<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Diet, Ketogenic--methods<br/>Female<br/>Glucose--cerebrospinal fluid<br/>Glucose Transporter Type 1--deficiency<br/>Guanosine--analogs & derivatives<br/>Humans<br/>Male<br/>Monosaccharide Transport Proteins--deficiency<br/>Mutation--genetics