Dr. Stephanie Schwartz

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is rated as a Distinguished provider by MediFind in the treatment of Urea Cycle Disorders (UCD). His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Propionic Acidemia.

Katherine Clement is a Pediatrics provider in Chapel Hill, North Carolina. Dr. Clement is rated as an Experienced provider by MediFind in the treatment of Urea Cycle Disorders (UCD). Her top areas of expertise are Urea Cycle Disorders (UCD) and Traumatic Brain Injury.