Yamamoto, Toshiyuki <br/><br/>
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.  [electronic resource] 

 -  Brain & development  May 2017 
 - 422-425 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1872-7131 
<br/><br/><label>Standard No.: </label>10.1016/j.braindev.2016.12.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Aspartylglucosaminuria--diagnostic imaging<br/>Aspartylglucosylaminase--genetics<br/>Exome--genetics<br/>Humans<br/>Japan<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation--genetics<br/>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization<br/>Thalamus--diagnostic imaging