Studies of mass infant screening for Wilson disease by urinary ceruloplasmin.
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Date
1999-12-13
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Abstract
We found a 4-year-old boy in the screened cohort, who showed a low ceruloplasmin (CP) in urine (17 ng/mg-creatinine) and in blood (0.6 mg/dl), but his urine copper was in the normal range. Furthermore this child was diagnosed as Wilson disease (WD) by genetic analysis. Although no significant correlation was observed between urine and blood levels of CP, it is conceivable that WD may be accompanied by very low concentration of urine CP.
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The Southeast Asian Journal of Tropical Medicine and Public Health.
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Kinoshita Y, Yamakami Y, Mori Y, Haruki E, Kikuchi N. Studies of mass infant screening for Wilson disease by urinary ceruloplasmin. The Southeast Asian Journal of Tropical Medicine and Public Health. 1999 ; 30 Suppl 2(): 149-50