Dr. Natowicz is interested in the transport of newly synthesized lysosomal enzymes to lysosomes and the genetic and non-genetic factors important in lysosomal enzyme regulation. He recently discovered a new lysosomal disorder, hyaluronidase deficiency, and is focusing on that enzyme. Dr. Natowicz develops new assays to diagnose and characterize these inborn errors of metabolism.
Related work concerns the biochemical evaluation of undiagnosed disorders.
Dr. Natowicz and colleagues performed key studies regarding the problem of genetic discrimination. More recent work concerns consumer involvement in public health policy making. M.R. Glucuronic acid conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders. H.W. Urinary bile acids and peroxisomal bifunctional enzyme deficiency. D.S. Urine sulfatides and the diagnosis of metachromatic leukodystrophy.