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Maja Di Rocco
Giannina Gaslini Institute
Maja Di Rocco is Head of the Unit of Rare Disease and Adjunct Professor of Metabolic Diseases at the Postgraduate School of Paediatrics, Medical Genetics and Paediatric Neurology and Psychiatry at the University of Genoa
Maja Di Rocco obtained her degree in medicine and surgery at the University of Genoa, where she went on to do a postgraduate degree in paediatrics and a postgraduate degree in paediatric neurology and psychiatry. Maja Di Rocco has served a fellowship in 1986 at the Department of Neurology, Columbia University, New York, NY, USA. She is a member of the Society for the Study of Inborn Errors of Metabolism, the Italian Society of Paediatrics, the Italian Society of Human Genetics and the Italian Society for the Study of Hereditary Metabolic Diseases. Her research areas include biochemical and molecular bases of inborn errors of metabolism, therapy of lysosomal diseases, and molecular bases of genetic diseases. She has published over 220 original articles on metabolic and genetic matter in peer-reviewed journals. Her H Index is 41 (39+2)
