Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Raymond Y Wang, Olaf A Bodamer, Michael S Watson, William R Wilcox
2011 Genetics in Medicine  
doi:10.1097/gim.0b013e318211a7e1 pmid:21502868 fatcat:sdz2nycxrrczviamygxevz2h6i