Head of Clinic and Coordinator of expert centre, Inborn Errors of Metabolism Unit, Departamento de Pediatria, Unidade de Doenças Metabólicas, Centro HospitalaLisboa Norte Hospital de Sta. Maria, PORTUGAL
Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed is trainee in Internal Medicine at Centro Hospitalar Lisboa Norte (Lisbon, Portugal). He is a PhD candidate in Lisbon University Medical School in the area of inborn errors of metabolism (biomarkers of Anderson-Fabry disease) in partnership with the University College of London. He performs the evaluation and follow up of patients with inherited metabolic disorders, mainly lysosomal storage disorders.
He is also member of the core team of one of the national reference center in inherited metabolic disorders (Centro Hospitalar Lisboa Norte), as well as member of the board of the rare diseases study group of the Portuguese Society of Internal Medicine.
His main research areas are Lysosomal Storage Disorders and Autonomic Nervous System Diseases, with several ongoing research projects on Anderson-Fabry disease (AFD) biomarkers, autonomic manifestations of AFD, immunogenicity against recombinant proteins used for enzyme replacement therapy, factors affecting quality of life in patients with type 1 Gaucher disease and neuroimaging prodromic signs of Parkinsonism in Gaucher disease. In 2014, he was awarded the prize of the Federation for the Development of Internal Medicine in Europe for research in the field of rare disorders.
He is invited lecturer of Lisbon University Medical school and has published 22 articles in national and international peer-reviewed journals and presented more than 100 communications in national and international conferences and meetings.