Department of Pediatrics: Genetics and Metabolism Research

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Research

The Division has been involved in clinical research projects involving clinical trials of new therapies as well as multicenter studies in clinical and molecular genetics. We have been involved in translational research, helping to make a bridge between the basic science resarchers in molecular genetics and the patients. Our large and varied patient population has given us the ability to conduct studies in several areas. Some of the recent and/or current studies are listed below.

Lewis J. Waber, M.D., Ph.D.

Enzyme replacement therapy of Mucopolysaccharidosis Type I
Enzyme replacement therapy for Mucopolysaccharidosis Type VI
Role of low protein foods in treatment of PKU
Terahydrobiopterin in the treatment of disorders of phenylalanine metabolism