Schlotawa, Lars <br/><br/>
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.  [electronic resource] 

 -  European journal of human genetics : EJHG  Sep 2013 
 - 1020-3 p.  digital 
<br/><br/> Publication Type: Case Reports; 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.2012.291  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Line, Tumor<br/>Child, Preschool<br/>Enzyme Stability--genetics<br/>Fatal Outcome<br/>Female<br/>Humans<br/>Molecular Diagnostic Techniques<br/>Multiple Sulfatase Deficiency Disease--diagnosis<br/>Oxidoreductases Acting on Sulfur Group Donors<br/>Sulfatases--genetics