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.


Together with the dieticians in BC Children's Hospital, we've created an exciting line-up of diet apps. These apps are designed to support families and children who suffer very rare disorders like: Maple Syrup Urine Disease, Pyridoxine dependent epilepsy, Phenylketonuria and 12 others.

You can read more about these apps and try them out via this link: