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.


The Garrod Association is an affiliation of over one hundred Canadian clinicians, researchers and policymakers involved in hereditary metabolic diseases and this year, their annual meeting and symposium was held in Winnipeg on May the 4th and 5th. TIDE BC’s Prof. Sylvia Stockler was there, presenting her recent findings on identifying patients with PKU that respond to sapropterin treatment and, to host a workshop on improving evidence of treatments for rare diseases.
TIDE BC’s Dr. Clara van Karnebeek was there to present both her recent work on lysine restricted diets for pyridoxine dependent epilepsy, and to present the results of TIDE BC’s diagnostic protocol, designed to find patients with treatable forms of global developmental delay/intellectual disability.