title: Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.
abstract: We conducted a mass-screening method to detect presymptomatic Wilson's disease in children by measuring urinary holoceruloplasmin. Two cases of Wilson's disease were found by testing urine samples from 48,819 children. The diagnosis was confirmed by clinical laboratory tests and the detection of a mutated ATP 7B gene.
authors.affiliation: Department of Pediatrics, Nihon University Surugadai Hospital, Tokyo Health Service Association, Tokyo, Japan.
authors.forename: Misao
authors.initials: M
authors.lastname: Owada
authors.forename: Ken
authors.initials: K
authors.lastname: Suzuki
authors.forename: Masaru
authors.initials: M
authors.lastname: Fukushi
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Yamauchi
authors.forename: Teruo
authors.initials: T
authors.lastname: Kitagawa
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002570:Ceruloplasmin / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D006527:Hepatolenticular Degeneration / Q000517:prevention & control* / Q000652:urine*; D006801:Humans; D008403:Mass Screening / Q000379:methods*
chemical_list: D002570:Ceruloplasmin