BIOMEDICINA e NUTRIZIONE

Biomedicine and Nutrition Research Network

Prof.ssa Graziella Uziel

Education

 

Graduated from Medical School magna cum laude University of Milan Italy 1977

Residency in Neurology 1981

Residency in Pediatrics 1986

 

Professional Experiences

 

1977-1980: Postdoc fellowship in the Laboratory of Biochemistry and Genetics at the Neurological Institute C. Besta. Milan

1981-1982: Postdoctoral fellowship in Pediatric Neurology  at Columbia University. New York

1983-1984: Assistant in Child Neurology at the Neurological Institute C. Besta. Milan

1994-2007: Associated in Child Neurology at the Neurological Institute C. Besta. Milan 

Professional Experties

 

Inherited metabolic encephalopathies in childhood

Screening, clinics, therapy in peroxisomal disorders with particular interest in adrenoleukodystrophy. 

Leukoencephalopathies in children

Mitochondrial Encephalopathies and Myopathies in children 

Neurological inclusion criteria and follow-up for treatment of lysosomal storage disorders with bone marrow transplantation

 

Academic Activities

 

Since 2003 Professor of Neurogenetics at the Faculty of Clinical Psichology Università degli Studi Bicocca- Milan.

 

Research Activities

Biochemical and clinical research in lysosomal storage disorders.

Biochemical and clinical research in lipid storage myopathies and mitochondrial disorderswith particular interest in disorders due to fatty acid ß-oxidation deficiency, pyruvate dehydrogenase deficiency and respiratory chain defects. 

Clinical research in inherited ataxias in childhood

Clinical and research in peroxisomal disorders with particular interest to X-linked adrenoleukodystrophy.

Clinical research in the field of defined and undefined forms of leukodystrophies in childhood.

Research activity is documeted by more than 100 publications including papers in indicized scientific journals and articles in books.