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.


Ramona Salvarinova, MD and Mrs Alette Giezen, RN of the Biochemical Diseases Division will be awarded the BC Children's Hospital Distinction Award for Patient and Family Centred Care on November 29th, 2012.
This duo has provided examplary care to a family with a delightful child diagnosed with a rare treatable inborn error of metabolism by newborn screening.