Jaeken, Jaak <br/><br/>
Clinical utility gene card for: Phosphomannose isomerase deficiency.  [electronic resource] 

 -  European journal of human genetics : EJHG  Sep 2014 
<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/ejhg.2014.29  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Congenital Disorders of Glycosylation--diagnosis<br/>Genetic Testing<br/>Humans<br/>Mannose-6-Phosphate Isomerase--deficiency<br/>Mutation