title: Pediatric gastroenterology. Update on metabolic liver disease.
abstract: Wilson's disease, genetic and neonatal hemochromatosis, protoporphyria, tyrosinemia, and alpha1-antitrypsin deficiency are updated. Cost effectiveness of screening is discussed. Current therapies are evaluated, including the role of transplantation. The molecular biologic technique PCR is covered. Gene therapy is introduced.
authors.affiliation: Department of Pediatrics, University of Minnesota Hospital and Clinics, Minneapolis 55445, USA.
authors.forename: S J
authors.initials: SJ
authors.lastname: Schwarzenberg
authors.forename: H L
authors.initials: HL
authors.lastname: Sharp
mesh_terms: D015316:Genetic Therapy; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016031:Liver Transplantation; D008403:Mass Screening; D008659:Metabolic Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016133:Polymerase Chain Reaction