Results for Inborn Errors of Metabolism

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

Dr. Krivitzky's research focuses on cognitive, behavioral, and social outcomes in pediatric stroke and related vascular conditions. She also has an interest in studying outcomes in children and adults with inborn errors of metabolism.

Dr. Master works to understand the biochemical pathways related to inborn errors of metabolism, particularly as they relate to mitochondrial function. He also focuses on bioinformatics and machine learning solutions to problems in mass spectrometry and laboratory medicine.

Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.