Tylki-Szymańska, Anna <br/><br/>
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2011 
 - 627-30 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2011.09.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>1-Deoxynojirimycin--analogs & derivatives<br/>Adult<br/>Diagnostic Errors<br/>Enzyme Inhibitors--therapeutic use<br/>Female<br/>Gaucher Disease--complications<br/>Hepatomegaly--drug therapy<br/>Humans<br/>Male<br/>Saposins--deficiency<br/>Splenomegaly--drug therapy<br/>Treatment Failure