Diagnosis of Wilson's disease: an experience over three decades (Q35359250)

7 August 2017

Diagnosis of Wilson's disease: an experience over three decades (English)

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7 August 2017

Gow PJ

1

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7 August 2017

Smallwood RA

2

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7 August 2017

Angus PW

3

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7 August 2017

Smith AL

4

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7 August 2017

Wall AJ

5

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7 August 2017

Sewell RB

6

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7 August 2017

language of work or name

English

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publication date

1 March 2000

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7 August 2017

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7 August 2017

46

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7 August 2017

3

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7 August 2017

415-419

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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

7 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Overcoming obstacles to the diagnosis of Wilson's disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Hemolytic anemia of Wilson's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Wilson's disease in the United Kingdom and Taiwan. I. General characteristics of 142 cases and prognosis. II. A genetic analysis of 88 cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Wilson's disease in adults with cirrhosis but no neurological abnormalities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Perspectives on Wilson's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Wilson disease: clinical presentation, treatment, and survival

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Striking variability of hepatic copper levels in fulminant hepatic failure

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

The role of radiocopper in the diagnosis of Wilson's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

A rate nephelometer for measuring specific proteins by immunoprecipitin reactions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

The Wilson disease gene: spectrum of mutations and their consequences.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727845

Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis

26 September 2018

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12 December 2020

Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families

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12 December 2020

Caeruioplasmin in liver disease. A diagnostic pitfall

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12 December 2020

Comparison of immunologic and enzymatic methods for ceruloplasmin quantitation in Wilson's disease

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12 December 2020

Diagnosis of Wilson's disease presenting as fulminant hepatic failure

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12 December 2020

Microwave energy for acid decomposition at elevated temperatures and pressures using biological and botanical samples

1 reference

12 December 2020

Can Wilson's disease patients be decoppered?

1 reference

12 December 2020

Value of urinary copper excretion after penicillamine challenge in the diagnosis of Wilson's disease

1 reference

12 December 2020

DNA markers for the diagnosis of Wilson disease

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12 December 2020

Identifiers

DOI

10.1136/GUT.46.3.415

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7 August 2017

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7 August 2017

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