Area of research
Clinical Biochemistry · Cell Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Muscle metabolism and nutrition, Amino Acid Enzymes and Metabolism, and Folate and B Vitamins Research.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
<scp>N</scp>omenclature of genetic movement disorders: <scp>R</scp>ecommendations of the international <scp>P</scp>arkinson and movement disorder society task force
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials