Area of research
Physiology · Rheumatology
Research interest
Research focused on Mucopolysaccharidosis type I and Hurler syndrome, with related work in Disease, Pediatrics, Tolerability. Notable publications include 'Phenylketonuria Scientific Review Conference: State of the science and future research needs', 'Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial', and 'Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants'.
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
Phenylketonuria Scientific Review Conference: State of the science and future research needs
Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler–Scheie syndrome
Low Bone Mineral Content and Challenges in Interpretation of Dual-Energy X-Ray Absorptiometry in Children With Mucopolysaccharidosis Types I, II, and VI