Area of research
Physiology · Rheumatology
Research interest
Research focused on Fabry disease and Enzyme replacement therapy, with related work in Disease, Workgroup, Data sharing. Notable publications include 'Fabry disease revisited: Management and treatment recommendations for adult patients', 'Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference', and 'Cerebrovascular Involvement in Fabry Disease'.
Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study
Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Fabry disease revisited: Management and treatment recommendations for adult patients
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment
Gastrointestinal involvement in Fabry disease. So important, yet often neglected
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina
Cerebrovascular Involvement in Fabry Disease