van Kuilenburg, André B P <br/><br/>
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in   [electronic resource] 

 -  The New England journal of medicine  04 2019 
 - 1433-1441 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1533-4406 
<br/><br/><label>Standard No.: </label>10.1056/NEJMoa1806627  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Metabolism, Inborn Errors--genetics<br/>Ataxia--genetics<br/>Atrophy--genetics<br/>Cerebellum--pathology<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Female<br/>Genotype<br/>Glutaminase--deficiency<br/>Glutamine--analysis<br/>Humans<br/>Male<br/>Microsatellite Repeats<br/>Mutation<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Whole Genome Sequencing