Disorders of mitochondrial fatty acid oxidation with an emphasis on control of insulin secretion by short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The Neuronal-Ceroid Lipofuscinoses. A stufdy of the function of CLN3P, the protein responsible for Juvenile Batten Disease
Pediatric Clinical Chemistry with an emphasis on inborn errors of metabolism. Director of a full service metabolic disease laboratory.
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Last updated: 11/02/2018
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