title: Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine, Box 1498, New York University, Fifth Avenue and 100th Street, New York, NY 10029, USA. rjdesnick@mssm.edu
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Astrin
mesh_terms: D000818:Animals; D001483:Base Sequence; D016026:Bone Marrow Transplantation; D015316:Genetic Therapy; D018380:Hematopoietic Stem Cell Transplantation; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D007231:Infant, Newborn; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation; D017092:Porphyria, Erythropoietic / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D012107:Research Design; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics
chemical_list: D006418:Heme; D014576:Uroporphyrinogen III Synthetase