Director of the Division of Inborn Errors of Metabolism, Department of Pediatrics, University Hospital of Padova, Padua, Italy and Expanded Neonatal Screening Center of North East of Italy.
Research interests include clinical and biochemical characterisation of inborn errors of intermediary metabolism, metabolic diseases in adulthood, and clinical application of tandem mass spectrometry for identification of new biomarkers for lysosomal disorders. Dr Burlina’s major research contributions include identification of novel inborn errors of metabolism (ethylmalonic aciduria, hyperinsulinism hyperammoaemia syndrome), and development of new therapeutic strategies including hepatocyte transplantation, neurotransmitter new drugs and chaperon molecules.Research interests include clinical and biochemical characterisation of inborn errors of intermediary metabolism, metabolic diseases in adulthood, and clinical application of tandem mass spectrometry for identification of new biomarkers for lysosomal disorders. Dr Burlina’s major research contributions include identification of novel inborn errors of metabolism (ethylmalonic aciduria, hyperinsulinism hyperammoaemia syndrome), and development of new therapeutic strategies including hepatocyte transplantation, neurotransmitter new drugs and chaperon molecules.