Mayorga, Lía <br/><br/>
A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?  [electronic resource] 

 -  Molecular genetics and metabolism  03 2018 
 - 331-336 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2017.12.436  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blood-Brain Barrier--metabolism<br/>Carbohydrate Metabolism, Inborn Errors--cerebrospinal fluid<br/>DNA-Binding Proteins--genetics<br/>Down-Regulation<br/>Female<br/>Frameshift Mutation<br/>Glucose--cerebrospinal fluid<br/>Glucose Transporter Type 1--metabolism<br/>Humans<br/>Infant, Newborn<br/>Leukocytes--metabolism<br/>Monosaccharide Transport Proteins--cerebrospinal fluid<br/>Transcription Factors--genetics<br/>Exome Sequencing