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.

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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.

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