Pathophysiology and clinical features of Wilson disease (Q35956327)

11 August 2017

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title

Pathophysiology and clinical features of Wilson disease (English)

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11 August 2017

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Peter Ferenci

1

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11 August 2017

1 December 2004

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11 August 2017

Metabolic Brain Disease

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11 August 2017

19

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11 August 2017

3-4

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11 August 2017

229-239

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https://scigraph.springernature.com/pub.10.1023/b:mebr.0000043973.10494.85

11 August 2017

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cites work

Evoked potentials in assessment and follow-up of patients with Wilson's disease.

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12 December 2020

Perspectives on Wilson's disease

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12 December 2020

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

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12 December 2020

The response of neurones and glial cells to elevated copper

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12 December 2020

Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

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12 December 2020

Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase

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12 December 2020

The elusive function of metallothioneins

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12 December 2020

Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin

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12 December 2020

Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity

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12 December 2020

Treatment of Wilson's disease with zinc: X. Intestinal metallothionein induction

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12 December 2020

Diagnosis of Wilson's disease presenting as fulminant hepatic failure

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12 December 2020

A practice guideline on Wilson disease

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12 December 2020

Misdiagnosis revealed by genetic linkage analysis in a family with Wilson disease

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12 December 2020

Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver

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12 December 2020

A murine model of Menkes disease reveals a physiological function of metallothionein

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12 December 2020

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

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12 December 2020

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

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12 December 2020

Ceruloplasmin metabolism and function

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12 December 2020

Treatment of Wilson disease with ammonium tetrathiomolybdate. II. Initial therapy in 33 neurologically affected patients and follow-up with zinc therapy

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12 December 2020

Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p

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12 December 2020

Diagnosis and phenotypic classification of Wilson disease

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12 December 2020

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

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12 December 2020

Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis

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12 December 2020

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

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12 December 2020

A novel pineal night-specific ATPase encoded by the Wilson disease gene

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12 December 2020

Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases.

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12 December 2020

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

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12 December 2020

Haplotype and mutation analysis in Japanese patients with Wilson disease

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12 December 2020

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis

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12 December 2020

Function and regulation of the mammalian copper-transporting ATPases: insights from biochemical and cell biological approaches

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12 December 2020

Function, structure, and mechanism of intracellular copper trafficking proteins

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12 December 2020

Cerebral manifestation of Wilson's disease successfully treated with liver transplantation.

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12 December 2020

Ceruloplasmin regulates iron levels in the CNS and prevents free radical injury.

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12 December 2020

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

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12 December 2020

Molecular advances in Wilson disease

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12 December 2020

Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction

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12 December 2020

Detailed evaluation of evoked potentials in Wilson's disease.

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12 December 2020

Radiocopper in diagnosing liver disease

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12 December 2020

No neurological improvement after liver transplantation for Wilson's disease

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12 December 2020

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

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12 December 2020

Biochemical characterization of the human copper transporter Ctr1

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12 December 2020

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

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12 December 2020

The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.

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12 December 2020

The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease

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12 December 2020

Wilson's disease, presenting as chronic active hepatitis

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12 December 2020

Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)

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12 December 2020

Wilson disease: findings at MR imaging and CT of the brain with clinical correlation.

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12 December 2020

Oxidative-phosphorylation defects in liver of patients with Wilson's disease

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12 December 2020

Structure of the Alzheimer's disease amyloid precursor protein copper binding domain. A regulator of neuronal copper homeostasis

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12 December 2020

Common mutations of ATP7B in Wilson disease patients from Hungary

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12 December 2020

Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease

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12 December 2020

Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease

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12 December 2020

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

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12 December 2020

Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases

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12 December 2020

Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins

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12 December 2020

The use of trientine in preventing the effects of interrupting penicillamine therapy in Wilson's disease

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12 December 2020

10.1023/B:MEBR.0000043973.10494.85

Identifiers

DOI

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PubMed ID

15554419

Dimensions Publication ID

11 August 2017

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1 reference

PubMed ID

15554419