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. 2002 May;140(5):614-6.
doi: 10.1067/mpd.2002.122731.

Mass screening for Wilson's disease by measuring urinary holoceruloplasmin

Misao Owada  1 , Ken Suzuki, Masaru Fukushi, Kuniaki Yamauchi, Teruo Kitagawa
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Mass screening for Wilson's disease by measuring urinary holoceruloplasmin

Misao Owada et al. J Pediatr. 2002 May.

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.

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