Diagnosis of Wilson's Disease: A Comprehensive Review

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Critical reviews in clinical laboratory sciences

• Publication date

  2008-01-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1080/10408360801991055PMID 18568852
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Report of 2 cases

  2008cited by this paper
• Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

  2008cited by this paper
• Recurrent limb weakness as initial presentation of Wilson's disease.

  2007cited by this paper
• Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.

  2007cited by this paper
• Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease

  2007cited by this paper
• Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.

  2007cited by this paper
• Unified Wilson's Disease Rating Scale - a proposal for the neurological scoring of Wilson's disease patients.

  2007cited by this paper
• Sebaceous glands in esophagus in gastroesophageal reflux disease.

  2007cited by this paper
• Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children.

  2007cited by this paper
• Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

  2007cited by this paper
• Sequence variation database for the Wilson disease copper transporter, ATP7B

  2007cited by this paper
• Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades

  2007cited by this paper
• Hepatocellular Carcinoma Associated with an Atypical Presentation of Wilson's Disease

  2007cited by this paper
• Late-onset Wilson's disease.

  2007cited by this paper
• Perspectives for gene therapy of Wilson disease.

  2007cited by this paper
• Wilson's disease with hepatic presentation in childhood.

  2007cited by this paper
• Depression and chorea. Diagnosis: Wilson's disease.

  2007cited by this paper
• Within-subject biological variation in disease: collated data and clinical consequences

  2007cited by this paper
• Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.

  2007cited by this paper
• Patient with late‐onset Wilson's disease: Deterioration with penicillamine

  2007cited by this paper
• Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis.

  2007cited by this paper
• [Whipple's triad as a clinical manifestation of hepatolenticular degeneration].

  2007cited by this paper
• Wilson's disease

  2007cited by this paper
• Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

  2007cited by this paper
• Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

  2007cited by this paper
• Wilson's disease presenting as respiratory failure

  2006cited by this paper
• Mutation analysis of Taiwanese Wilson disease patients.

  2006cited by this paper
• Wilson's disease: a patient undiagnosed for 18 years.

  2006cited by this paper
• Late onset of Wilson's disease in a family with genetic haemochromatosis

  2006cited by this paper
• A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia

  2006cited by this paper
• Wilson’s disease associated with delusional disorder

  2006cited by this paper
• Poor cognitive development and abdominal pain: Wilson's disease

  2006cited by this paper
• Morbus Wilson: Case report of a two-year-old child as first manifestation

  2006cited by this paper
• Psychological presentations without hepatic involvement in Wilson disease.

  2006cited by this paper
• p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease

  2006cited by this paper
• Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

  2006cited by this paper
• Wilson's disease presenting as status epilepticus.

  2006cited by this paper
• Wilson's disease and benign epilepsy of childhood with centrotemporal (rolandic) spikes.

  2006cited by this paper
• Hepatolenticular Degeneration Combined with Primary Antiphospholipid Syndrome: A Case Report

  2006cited by this paper
• Two unusual cases with Wilson's disease: hepatoma and fulminant hepatitis treated with plasma exchange.

  2006cited by this paper
• Painless legs moving toes in a patient with Wilson's disease

  2006cited by this paper
• History of Wilson's disease: 1912 to 2000

  2006cited by this paper
• Severe ataxia, myelopathy, and peripheral neuropathy due to acquired copper deficiency in a patient with history of gastrectomy.

  2006cited by this paper
• Adjusting copper concentrations for caeruloplasmin levels in routine clinical practice

  2006cited by this paper
• Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.

  2006cited by this paper
• Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: An animal model for Wilson disease

  2006cited by this paper
• Direct diagnosis of Wilson disease by molecular genetics.

  2006cited by this paper
• Paradigm shift in treatment of Wilson's disease: zinc therapy now treatment of choice.

  2006cited by this paper
• Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

  2006cited by this paper
• Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.

  2006cited by this paper
• Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study

  2006cited by this paper
• Reference range for micronutrients and nutritional marker proteins in cord blood of neonates appropriated for gestational ages.

  2005cited by this paper
• Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity

  2005cited by this paper
• Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: a single-hospital, 10-year follow-up study.

  2005cited by this paper
• Menkes’ kinky hair syndrome

  2005cited by this paper
• Wilson disease in southern Iran.

  2005cited by this paper
• Relationship between serum copper, ceruloplasmin, and non-ceruloplasmin-bound copper in routine clinical practice.

  2005cited by this paper
• Wilson disease in septuagenarian siblings: Raising the bar for diagnosis

  2005cited by this paper
• [Ceruloplasmin level of patients with liver disease in China].

  2005cited by this paper
• Besteht das Pigment des Kayser-Fleischerschen Hornhautringes aus Silber?

  2005cited by this paper
• Isolated tongue involvement--an unusual presentation of Wilson's disease.

  2005cited by this paper
• Wilson Disease: High Prevalence in a Mountaineous Area of Crete

  2005cited by this paper
• Twenty‐four novel mutations in Wilson disease patients of predominantly European ancestry

  2005cited by this paper
• Wilson's disease: clinical management and therapy.

  2005cited by this paper
• Wilson's disease presenting as status epilepticus.

  2005cited by this paper
• Wilson disease—Keeping the bar for diagnosis raised

  2005cited by this paper
• Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease.

  2005cited by this paper
• Wilson’s disease: diagnostic errors and clinical implications

  2004cited by this paper
• Comparison of ultrafiltration and solid phase extraction for the separation of free and protein-bound serum copper for the Wilson's disease diagnosis.

  2004cited by this paper
• Rare presentation of Wilson's disease: A case report

  2004cited by this paper
• Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

  2004cited by this paper
• The Other Mutation Is Found: Follow-Up of an Exceptional Family with Wilson Disease

  2004cited by this paper
• Value of an enzymatic assay for the determination of serum ceruloplasmin.

  2004cited by this paper
• Infant with severe penicillamine embryopathy born to a woman with Wilson disease

  2004cited by this paper
• Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene.

  2004cited by this paper
• Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

  2004cited by this paper
• The reference change value: a proposal to interpret laboratory reports in serial testing based on biological variation

  2004cited by this paper
• Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

  2004cited by this paper
• Haemolytic anaemia as initial manifestation of wilson's disease

  2004cited by this paper
• Wilson's Disease: a challenge of diagnosis. The 5-year experience of a tertiary centre.

  2004cited by this paper
• Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology

  2004cited by this paper
• Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically

  2003cited by this paper
• Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease

  2003cited by this paper
• Diagnosis and phenotypic classification of Wilson disease 1

  2003cited by this paper
• Population screening in the age of genomic medicine.

  2003cited by this paper
• Evaluation of diagnostic parameters of Wilson's disease in childhood.

  2003cited by this paper
• Aceruloplasminemia, an iron metabolic disorder

  2003cited by this paper
• Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.

  2003cited by this paper
• A practice guideline on Wilson disease

  2003cited by this paper
• Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia.

  2002cited by this paper
• Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.

  2002cited by this paper
• Pilot study of mass screening for Wilson's disease in Korea.

  2002cited by this paper
• Use of CRM 470/RPPHS has not achieved true consensus for ceruloplasmin measurement.

  2002cited by this paper
• Laboratory tests for the diagnosis of cystic fibrosis.

  2002cited by this paper
• Population screening for Wilson's disease.

  2002cited by this paper
• Common mutations of ATP7B in Wilson disease patients from Hungary.

  2002cited by this paper
• Oxidative stress in pediatric nephrotic syndrome.

  2002cited by this paper
• Ceruloplasmin metabolism and function.

  2002cited by this paper
• Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.

  2002cited by this paper
• Spurious dyserythropoiesis.

  2002cited by this paper

• Beyond the liver: A pediatric case of neurological deterioration in Wilson’s disease

  2025cites this paper
• Copper speciation and total essential trace element levels in Wilson's disease.

  2025cites this paper
• Near-Infrared II Excited Off-On Fluorescent Probe for Molecular Imaging of Copper Ions in Wilson Disease

  2025cites this paper
• Positioning the Cu/Zn Ratio within the Diagnostic Framework of Wilson Disease: Methodological and Conceptual Considerations

  2025cites this paper
• Wilson’s disease presenting with polyneuropathy: a case report

  2025cites this paper
• Genetic screening of ATP7B gene in Iranian Wilson disease patients: a diverse landscape of pathogenic variants

  2025cites this paper
• Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data

  2025cites this paper
• Could Urinary Copper/Zinc Ratio Be a Newer Tool to Replace 24-Hour Urinary Copper Excretion for Diagnosing Wilson Disease in Children?

  2024cites this paper
• Diagnosis and management of Wilson’s disease: Current perspectives

  2023cites this paper
• Nanomedicine targets endogenous copper ions for disease diagnosis and therapy

  2023cites this paper
• Wilson's Disease Manifestation in Late Adulthood: A Case Report and Literature Review

  2022influential citation
• Immune Checkpoint Inhibitor-Induced Hepatic Injury: A Clinicopathologic Review

  2022cites this paper
• Liposome-encapsulated curcumin attenuates HMGB1-mediated hepatic inflammation and fibrosis in a murine model of Wilson's disease.

  2022cites this paper
• Missing heritability of Wilson disease: a search for the uncharacterized mutations

  2022cites this paper
• Other Neurologic Disorders Associated with Gastrointestinal Disease

  2021cites this paper
• Biochemical testing for the diagnosis of Wilson's disease: A systematic review

  2021cites this paper
• HR-MS Based Untargeted Lipidomics Reveals Characteristic Lipid Signatures of Wilson’s Disease

  2021cites this paper
• FOUR DIFFERENT PRESENTATIONS OF WILSON’S DISEASE IN ONE FAMILY

  2021cites this paper
• Estimating the clinical prevalence of Wilson’s disease in the UK

  2021cites this paper
• Hepatic and gastrointestinal disorders

  2021cites this paper
• Environmental causes of copper toxicity should not be forgotten in familial presentations

  2021cites this paper
• Copper nutrition and biochemistry and human (patho)physiology.

  2021cites this paper
• Wilson's Disease Presenting in Late Adult Life

  2021cites this paper
• Evaluation of liver fibrosis in patients with Wilson’s disease

  2020cites this paper
• Historical note: The Kayser–Fleischer ring

  2020cites this paper
• Effects of Dietary Glucose and Fructose on Copper, Iron, and Zinc Metabolism Parameters in Humans

  2020cites this paper
• Copper

  2020cites this paper
• Akute und chronische Hepatitis

  2020cites this paper
• Voeding

  2019cites this paper
• Wilson disease

  2019cites this paper
• Importance of a Liver Biopsy in the Management of Wilson Disease

  2019cites this paper
• A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next-generation sequencing and Sanger sequencing

  2019cites this paper
• Pregnancy outcome of recurrent spontaneous abortion in Wilson’s disease after decoppering therapy

  2019cites this paper
• Direct Determination of Non-Ceruloplasmin-Bound Copper in Plasma

  2019cites this paper
• A Case Report of Misdiagnosis of Psychotic Symptoms Predominant Wilson's Disease

  2018cites this paper
• Acute-on-chronic Liver Failure in a Young Lady

  2018cites this paper
• Definitions, Epidemiology and Prognostication of Liver Disease

  2018cites this paper
• 6 – Viral Hepatitis

  2018cites this paper
• Liver Function in Health and Disease

  2018cites this paper
• In vivo toxic effects of 4-methoxy-5-hydroxy-canthin-6-one in zebrafish embryos via copper dyshomeostasis and oxidative stress.

  2018cites this paper
• Ratiometric Photoacoustic Nanoprobe for Bioimaging of Cu2.

  2018cites this paper
• Neurologic Wilson disease: case series on a diagnostic and therapeutic emergency

  2018cites this paper
• Essential tremor and the cerebellum.

  2018cites this paper
• Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment

  2018cites this paper
• Liver histology and histochemistry in Wilson disease

  2018cites this paper
• Copper: Basic Physiological and Nutritional Aspects

  2017cites this paper
• The genetics of Wilson disease.

  2017cites this paper
• Wilson’s Disease: Neurological Aspects, Clinical Manifestations, and Treatment Considerations

  2017cites this paper
• Screening of Wilson’s disease in a psychiatric population: difficulties and pitfalls. A preliminary study

  2017cites this paper
• A clinical study of bone mesenchymal stem cells for the treatment of hepatic fibrosis induced by hepatolenticular degeneration.

  2017cites this paper
• Inherited Metabolic Disorders with Associated Movement Abnormalities

  2016cites this paper
• The role of calculated non-caeruloplasmin-bound copper in Wilson’s disease

  2016cites this paper
• Essential Tremor

  2016cites this paper
• Acute-on-chronic and Decompensated Chronic Liver Failure: Definitions, Epidemiology, and Prognostication.

  2016cites this paper
• Métabolismes hépatiques

  2016cites this paper
• Genetics of Atypical Parkinsonism

  2015cites this paper
• Elevated serum brain natriuretic peptide and matrix metalloproteinases 2 and 9 in Wilson’s disease

  2015cites this paper
• Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

  2015cites this paper
• Hipertransaminasemia persistente en el adulto: una situación frecuente como presentación de la enfermedad de Wilson

  2015cites this paper
• Spectrum of Cutaneous Manifestations in Wilson’s Disease-Naïve Patients and Patients on Treatment

  2015cites this paper
• Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene.

  2015cites this paper
• [Persistent elevated transaminases in the adult: A common situation like the presentation of Wilson's disease].

  2015cites this paper
• AMERICAN UNIVERSITY OF BEIRUT EFFECT OF COPPER CHELATORS ON FERROXIDASE AND IRON BINDING PROTEINS: IMPLICATIONS ON WILSON DISEASE by TAMAR

  2014cites this paper
• Wilson's disease: hepatic manifestations.

  2014cites this paper
• Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration

  2014cites this paper
• Congential scoliosis in Wilson’s disease: case report and review of the literature

  2014cites this paper
• Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings.

  2014cites this paper
• Wilson Disease in the South Chinese Han Population

  2014cites this paper
• New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

  2014cites this paper
• Kayser-Fleischer Rings in Wilson's Disease

  2014cites this paper
• A Case Study on Wilson Disease

  2014influential citation
• Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings Atipi˛ ni primer Vilsonove bolesti sa psihoti˛ nim po˛ etkom, niskim bakrom u 24-satnom urinu i odsustvom Kajzer Flajšerovih prstenova

  2014cites this paper
• Wilson’s Disease (Hepatolenticular Degeneration): Dermatological Features

  2013cites this paper
• What can flies tell us about copper homeostasis?

  2013cites this paper
• Essential Tremor and Other Forms of Kinetic Tremor

  2013cites this paper
• Copper in Brain and Neurodegeneration

  2013cites this paper
• The acute haemolytic syndrome in Wilson's disease--a review of 22 patients.

  2013cites this paper
• Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

  2013cites this paper
• Wilson?s Disease with Wolff-Parkinson-White Syndrome: Case report -

  2013cites this paper
• La maladie de Wilson chez l'enfant: à propos de 20 cas

  2013cites this paper
• Update on Wilson disease.

  2013cites this paper
• [Wilson's disease in the child: apropos of 20 cases].

  2013cites this paper
• Copper homeostasis in human mammary epithelial cells

  2013cites this paper
• Urinary copper excretion before and after oral intake of d-penicillamine in parents of patients with Wilson's disease.

  2012cites this paper
• Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

  2012cites this paper
• Micronutrient (Zn, Cu, Fe)-gene interactions in ageing and inflammatory age-related diseases: implications for treatments.

  2012cites this paper
• Liver disease in pregnancy.

  2012cites this paper
• Therapeutic plasma exchange for fulminant hepatic failure secondary to Wilson's disease

  2012influential citation
• Kayser-Fleischer ring in Wilson's disease: a cohort study.

  2012cites this paper
• Amino Acids, Peptides, and Proteins

  2012cites this paper
• Indicazioni per la misura delle principali proteine sieriche

  2012influential citation
• Evaluación de la eficacia y seguridad del tratamiento con tetratiomolibdato de amonio en la enfermedad de Wilson con afectación neurológica

  2012cites this paper
• Vitamins and Trace Elements

  2012cites this paper
• - Blood, Plasma, Cells, and Other Biological Fluids

  2012cites this paper
• Enfermedad de Wilson

  2011cites this paper
• Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects.

  2011cites this paper
• Wilson's disease.

  2011cites this paper
• Cryptogenic Chronic Hepatitis and Its Changing Guise in Adults

  2011cites this paper
• Relative exchangeable copper: a new highly sensitive and highly specific biomarker for Wilson's disease diagnosis.

  2011cites this paper
• Diagnosis and Treatment of Common Forms of Tremor

  2011cites this paper