Mass screening for Wilson's disease by measuring urinary holoceruloplasmin - 01/09/11
Doi : 10.1067/mpd.2002.122731
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. (J Pediatr 2002;140:614-6)
Le texte complet de cet article est disponible en PDF. | Supported by a grant from the Japanese Ministry of Health and Welfare, 1994-2000 (to T. K.). |
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Vol 140 - N° 5
P. 614-616 - mai 2002 Retour au numéro
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