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Mass screening for Wilson's disease by measuring urinary holoceruloplasmin
Misao Owada1, Ken Suzuki, Masaru Fukushi
1Department of Pediatrics, Nihon University Surugadai Hospital, Tokyo Health Service Association, Tokyo, Japan.
The Journal of Pediatrics
|May 29, 2002
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.