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Article

Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

Journal of inherited metabolic disease - 1 Feb 1999

Ohura T, Abukawa D, Shiraishi H, Yamaguchi A, Arashima S, Hiyamuta S, Tada K, Iinuma K

Abstract excerpt

Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1...

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Identifiers

PMID: 10070620
DOI: 10.1023/a:1005455401076

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10070620-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.PMID 10070620Read ↗

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PROSPECTIVE SCREENING OF WILSON DISEASE IN PRIMARY SCHOOL CHILDREN USING SPOT URINE: AN UNFORESEEN SUCCESS IN CASE DIAGNOSIS IN A PILOT STUDYSemantic proximity Read ↗

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

Biochemical markers for the diagnosis and monitoring of Wilson DiseaseSemantic proximity Read ↗

Wilson's disease: monocentric experiences over a period of 10 years [corrected].Semantic proximity Read ↗

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Early diagnosis of Wilson Disease in a six-year-old child.Semantic proximity Read ↗

A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives.Semantic proximity Read ↗

A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.Semantic proximity Read ↗

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