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Research

The staff at the Inherited Metabolic Disease Clinic participates in a variety of research dealing with metabolic and bone diseases. Medical Director William Rizzo, M.D., has been actively involved in research for more than 20 years to develop diagnostic testing and effective therapy for the metabolic disease called Sjögren-Larsson syndrome. He discovered the enzyme defect that causes this metabolic disorder and developed a diagnostic test for children with Sjögren-Larsson syndrome that is used throughout the world. Collaborative research studies on other diseases, including PKU, are also ongoing in the clinic.

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