Area of research
Pulmonary and Respiratory Medicine · Molecular Biology
Research interest
Research focused on Fabry disease and Enzyme replacement therapy, with related work in Phenotype, Diabetes insipidus, HEK 293 cells. Notable publications include 'Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat', 'Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study', and 'Diabetes insipidus'.
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance)
OVERTURE: A Worldwide, Prospective, Observational Study of Disease Characteristics in Patients With ADPKD
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus
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
Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
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
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families