Literature DB >> 12032531

Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.

Misao Owada1, Ken Suzuki, Masaru Fukushi, Kuniaki Yamauchi, Teruo Kitagawa.   

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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Year:  2002        PMID： 12032531     DOI： 10.1067/mpd.2002.122731

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

1.  Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Authors:  Ja-Hyun Jang; Taeheon Lee; Sunghee Bang; Young-Eun Kim; Eun-Hae Cho
Journal:  J Hum Genet       Date:  2017-05-18       Impact factor: 3.172

Review 2.  The genetics of Wilson disease.

Authors:  Irene J Chang; Si Houn Hahn
Journal:  Handb Clin Neurol       Date:  2017

3.  Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

Authors:  Sunhee Jung; Jeffrey R Whiteaker; Lei Zhao; Han-Wook Yoo; Amanda G Paulovich; Si Houn Hahn
Journal:  J Proteome Res       Date:  2016-12-09       Impact factor: 4.466

Review 4.  Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.

Authors:  Hiroko Kodama; Chie Fujisawa; Wattanaporn Bhadhprasit
Journal:  Curr Drug Metab       Date:  2012-03       Impact factor: 3.731
  4 in total

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