Ebrahim, Hatim Y <br/><br/>
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).  [electronic resource] 

 -  Journal of inherited metabolic disease  Mar 2012 
 - 325-34 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-011-9395-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Case-Control Studies<br/>Cell Line<br/>Fabry Disease--enzymology<br/>Female<br/>Glycogen Storage Disease Type II--enzymology<br/>HEK293 Cells<br/>Humans<br/>Lysosomes--genetics<br/>Male<br/>Mutagenesis, Site-Directed--methods<br/>Mutation, Missense<br/>Transfection--methods<br/>alpha-Galactosidase--genetics<br/>alpha-Glucosidases--genetics