Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


Prof. Sylvia Stockler and Dr George Alexander were at the World Symposium for Lysosomal Diseases in Orlando Florida this past week presenting a scientific poster describing the TIDE-BC-supported MorquioBetter Patient Registry & Database and meeting up with other members of the MorquioBetter Consortium.

PDE Consortium
They had the opportunity to not only present the MorquoiBetter Project to a global audience involved in rare and orphan diseases, they were also able to have one-on-one discussions with other consortium members and fellow symposium attendees as to how we can best use and mature this Registry/Database in a way that encourages and supports more research into Morquio B Disease and GM-1 Gangliosidosis.

The other consortium members who attended were Prof. Werner Windischhofer, Univ. Graz, Austria; Prof. Michael Beck, J.G. Univ. Mainz, Germany; Prof. Eduard Paschke, Univ. Graz, Austria; Prof. Yoshiyuki Suzuki, Int. Univ., Otawara Japan, Prof. Roberto Giugliani, UFRGS, Porto Alegre, Brazil and Prof. Cynthia Tifft, NIH Bethesda Maryland.