(Q34111553)

31 July 2017

1 reference

title

ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring (English)

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31 July 2017

1 reference

Gaffney D

1

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31 July 2017

Fell GS

series ordinal

2

1 reference

31 July 2017

O'Reilly DS

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 November 2000

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Journal of Clinical Pathology

31 July 2017

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31 July 2017

53

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31 July 2017

807-812

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31 July 2017

11

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Wilson disease in 1998: genetic, diagnostic and therapeutic aspects

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Wilson's disease: resolution of MRI lesions following long-term oral zinc therapy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Practical recommendations and new therapies for Wilson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Haplotype studies in Wilson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Dangers of non-compliance in Wilson's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

DNA-based presymptomatic diagnosis of Wilson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1731102

Studies on levels of penicillamine-induced cupriuresis in heterozygotes of Wilson's disease

28 October 2018

1 reference

12 December 2020

The discovery of the therapeutic use of D-penicillamine

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12 December 2020

The management of pregnancy in Wilson's disease treated with trientine

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12 December 2020

Wilson's disease presenting as acute fulminant hepatic failure

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12 December 2020

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

1 reference

12 December 2020

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

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12 December 2020

Uneven hepatic copper distribution in Wilson's disease

1 reference

12 December 2020

Use of a stable copper isotope (65Cu) in the differential diagnosis of Wilson's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective biliary copper excretion in Wilson's disease: the role of caeruloplasmin

1 reference

12 December 2020

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1136/JCP.53.11.807

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31 July 2017

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31 July 2017

1 reference