van Karnebeek, Clara D M <br/><br/>
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.  [electronic resource] 

 -  American journal of human genetics  09 2019 
 - 534-548 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2019.07.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Animals<br/>Aspartic Acid--metabolism<br/>Brain Diseases--genetics<br/>Child<br/>Child, Preschool<br/>Fatty Acid-Binding Proteins--genetics<br/>Female<br/>Gene Knockdown Techniques<br/>HEK293 Cells<br/>Humans<br/>Malates--metabolism<br/>Male<br/>Mice<br/>Mutation<br/>Exome Sequencing