Area of research
Physiology · Rheumatology
Research interest
Research focused on Mucopolysaccharidosis type I and Population, with related work in Enzyme replacement therapy, Pediatrics, Regimen. Notable publications include 'International guidelines for the management and treatment of Morquio A syndrome', 'The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada', and 'Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants'.
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
Impact of long‐term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
International guidelines for the management and treatment of Morquio A syndrome
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure