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Name
Patricio Aguiar
Title
Prof
Bio
Adult Inherited Metabolic Disorders Clinic, Medicine 1 department, Centro
Hospitalar Lisboa Norte, Lisbon, Portugal; Faculty of Medicine, Lisbon University.
Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed his
trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte
(Lisbon, Portugal). He completed his PhD at Lisbon University Medical School, in 2018, in the
field 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 e Universitário 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 28 articles in
national and international peer-reviewed journals and presented more than 100
communications in national and international conferences and meetings.
Hospitalar Lisboa Norte, Lisbon, Portugal; Faculty of Medicine, Lisbon University.
Patrício Aguiar graduated at Lisbon University Medical School in 2006 and completed his
trainee in Internal Medicine, in 2017, at Centro Hospitalar e Universitário Lisboa Norte
(Lisbon, Portugal). He completed his PhD at Lisbon University Medical School, in 2018, in the
field 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 e Universitário 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 28 articles in
national and international peer-reviewed journals and presented more than 100
communications in national and international conferences and meetings.
