Area of research
Physiology · Rheumatology
Research interest
Research interests include Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Trypanosoma species research and implications, and Cellular transport and secretion.
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry
Long-Term Treatment of Gaucher Disease with Velaglucerase Alfa in ERT-Naïve Patients from the Gaucher Outcome Survey (GOS) Registry
First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS)
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm
Clinical outcomes after 4.5 years of eliglustat therapy for <scp>Gaucher</scp> disease type 1: Phase 3 <scp>ENGAGE</scp> trial final results
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial
Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey
Delivery of epilepsy care to adults with intellectual and developmental disabilities
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study
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