Area of research
Physiology · Rheumatology
Research interest
Research interests include Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Hemoglobinopathies and Related Disorders, and Iron Metabolism and Disorders.
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study
Vosoritide therapy in children with achondroplasia aged 3−59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
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
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study
International guidelines for the management and treatment of Morquio A syndrome