Jaeken, Jaak <br/><br/>
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.  [electronic resource] 

 -  European journal of human genetics : EJHG  11 2019 
 - 1757-1760 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/s41431-019-0453-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Congenital Disorders of Glycosylation--diagnosis<br/>Genetic Predisposition to Disease--genetics<br/>Genotype<br/>Humans<br/>Mutation<br/>Phosphoglucomutase--genetics<br/>Risk Assessment<br/>Sensitivity and Specificity