Area of research
Physiology · Genetics
Research interest
Research interests include Medicine, Internal medicine, Cardiology, Adverse effect, Fabry disease, and Disease.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study
Consensus clinical management guidelines for Alström syndrome
Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease
The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage
Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy
Consensus clinical management guidelines for Niemann-Pick disease type C
Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease
Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study