☆ 4.6 Review

Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

DIAGNOSTICS (2023)

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Article Gastroenterology & Hepatology

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

Michael L. Schilsky et al.

Summary: This is an executive summary of the extensively rewritten guidance on the diagnosis and management of Wilson disease. The full guidance document can be found on the American Association for the Study of Liver Diseases (AASLD) website. The summary provides an overview and guidance statements based on evidence and expert consensus opinion.

HEPATOLOGY (2023)

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Review Gastroenterology & Hepatology

Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder

Malin Fromme et al.

Summary: Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, leading to the retention of AAT in liver cells and resulting in liver injury and lung disease. The Pi*ZZ genotype is responsible for severe AATD cases and can cause liver diseases in both children and adults. This review examines the relationship between genotypes and hepatic phenotypes, discusses the mechanisms of liver disease development, and explores diagnostic and therapeutic approaches for managing this disorder.

JOURNAL OF HEPATOLOGY (2022)

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Article Gastroenterology & Hepatology

Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency

Malin Fromme et al.

Summary: Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder caused by mutations in the alpha-1 antitrypsin (AAT) gene. Different AATD genotypes have varying degrees of liver and biliary abnormalities, with the Pi*ZZ genotype showing the highest occurrence of liver fibrosis/cirrhosis and primary liver cancer. Male sex, age >= 50 years, obesity and the presence of diabetes were associated with significant liver fibrosis.

GUT (2022)

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Article Radiology, Nuclear Medicine & Medical Imaging

Liver stiffness assessed by real-time two-dimensional shear wave elastography predicts hypersplenism in patients with Wilson's disease: a prospective study

Jiajia Wang et al.

Summary: This study aimed to explore the value of liver stiffness assessed by two-dimensional real-time shear wave elastography (2D-SWE) in predicting hypersplenism in Wilson's disease (WD) patients. The results showed that age, portal vein diameter, and liver stiffness were independent risk factors for hypersplenism in WD patients. The cutoff value of liver stiffness for predicting hypersplenism was 10.45 kPa, with a sensitivity of 75.9% and specificity of 73.8%. Dynamic monitoring of liver stiffness using 2D-SWE is crucial for the early diagnosis of hypersplenism in WD patients.

BMC MEDICAL IMAGING (2022)

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Article Gastroenterology & Hepatology

Non-invasive diagnosis and follow-up of rare genetic liver diseases

Rodolphe Sobesky et al.

Summary: Rare genetic liver diseases can cause multi-systemic damage, significantly affecting patient prognosis. Wilson's disease and alpha-1 antitrypsin deficiency should be carefully investigated. Cystic fibrosis screening is now widely implemented in high-prevalence countries. Specific non-invasive tests are key for diagnosing these diseases.

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY (2022)

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Review Medicine, General & Internal

Eye Involvement in Wilson's Disease: A Review of the Literature

Kevin Chevalier et al.

Summary: Wilson's disease is a genetic disorder caused by a mutation in the ATP7B gene, resulting in abnormal copper excretion and accumulation in various tissues. Ocular findings play a significant role in the diagnosis and follow-up of the disease. The most common ocular manifestations include Kayser-Fleischer ring and sunflower cataracts. Slit-lamp examination is commonly used for diagnosis and follow-up, but new techniques such as anterior segment optical coherence tomography and Scheimpflug imaging are also available.

JOURNAL OF CLINICAL MEDICINE (2022)

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Review Gastroenterology & Hepatology

Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver

Samuel Shribman et al.

Summary: This Review provides a practical guide to the diagnosis of Wilson's disease, including recommendations on indications for testing, how to interpret results, and when additional investigations are required. It also covers treatment initiation and the principles behind long-term management.

LANCET GASTROENTEROLOGY & HEPATOLOGY (2022)

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Article Gastroenterology & Hepatology

Long-Term Urinary Copper Excretion and Exchangeable Copper in Children With Wilson Disease Under Chelation Therapy

Dany Hermann Ngwanou et al.

Summary: This study describes the long-term changes in exchangeable copper (ExC) levels compared to 24-hour urinary copper excretion (UCE) levels in pediatric patients with symptomatic Wilson's disease (WD) under chelation therapy. The results show a significant decrease in both ExC and 24-hour UCE levels during the first year of follow-up, with similar dynamics along the follow-up period, indicating their usefulness in monitoring WD in clinical practice.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2022)

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Article Clinical Neurology

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

Catarina Pinto et al.

Summary: This study assessed the role of brain MRI in predicting brain lesion reversion and neurological outcomes in pediatric Wilson's disease patients after liver transplantation. The results showed that the pattern of T2-weighted hyperintensities was unpredictable and did not correlate with neurological outcomes, suggesting that these changes may not cause irreversible clinical damage. Therefore, brain MRI does not seem to have prognostic value for assessing clinical response to liver transplantation.

MOVEMENT DISORDERS CLINICAL PRACTICE (2022)

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Article Gastroenterology & Hepatology

Ratio of aspartate aminotransferase to alanine aminotransferase and alkaline phosphatase to total bilirubin in Wilsonian acute liver failure in children

Afsana Yasmin et al.

Summary: The diagnosis of Wilsonian acute liver failure in children can be assisted by AST/ALT and ALP/TB ratios, but they are not definitive indicators. The mortality rate is high in WALF cases, and a high score on the new Wilson index can predict mortality without liver transplantation.

INDIAN JOURNAL OF GASTROENTEROLOGY (2022)

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Article Gastroenterology & Hepatology

Maintenance therapy simplification using a single daily dose: A preliminary real-life feasibility study in patients with Wilson disease

Olivier Guillaud et al.

Summary: This retrospective study reports the effectiveness of using a single daily dose (SDD) for the treatment of Wilson disease (WD). The results show that most patients had good treatment outcomes with SDD, and there were no serious adverse effects.

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY (2022)

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Article Medicine, Research & Experimental

High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson's disease

Oihana Murillo et al.

Summary: This study demonstrated that VTX-801 restores copper metabolism in WD mice and Cu-64-PET imaging can sensitively detect the pharmacodynamic effects of VTX-801.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2022)

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Review Medicine, General & Internal

Accuracy of controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) for assessing steatosis and fibrosis in non-alcoholic fatty liver disease: A systematic review and meta-analysis

Yu-Tian Cao et al.

Summary: This meta-analysis evaluated the performance of controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) in assessing steatosis and fibrosis in non-alcoholic fatty liver disease (NAFLD). The results showed that CAP and LSM had good performance in diagnosing mild steatosis, advanced liver fibrosis, and cirrhosis, making them useful for screening NAFLD in high-risk populations. However, the accuracy of CAP in detecting steatosis is reduced in patients with obesity and requires specific diagnostic values. For LSM, the same diagnostic values can be used with appropriate probe selection based on body mass index (BMI) and an automated probe selection tool. Further validation and improvement of CAP and LSM performance are needed for assessing steatosis in patients with obesity, moderate to severe steatosis, and low-grade fibrosis.

ECLINICALMEDICINE (2022)

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Article Gastroenterology & Hepatology

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 practice guidance on Wilson disease from the American Association for the Study of Liver Diseases

Michael L. L. Schilsky et al.

HEPATOLOGY (2022)

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Article Respiratory System

Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PIZZ and PISZ in the Spanish registry of EARCO

Maria Torres-Duran et al.

Summary: There is a high prevalence of PI*SZ in Spain, and patients with this genotype tend to have less severe lung disease but a higher prevalence of asthma.

ERJ OPEN RESEARCH (2022)

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Article Genetics & Heredity

ATP7B variant spectrum in a French pediatric Wilson disease cohort

Eduardo Couchonnal et al.

Summary: The spectrum of ATP7B variants in the French population showed significant heterogeneity, with p.His1069Gln being the most prevalent variant at 14.2%. Exons 14, 8, and 2 accounted for 41.7% of total variants. Nonsense/Frameshift variants were found to be associated with lower levels of ceruloplasmin.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)

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Article Gastroenterology & Hepatology

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

Christopher J. Collins et al.

Summary: Quantification of ATP7B peptide effectively identified Wilson disease patients in 92.1% of presented cases, reducing ambiguities from ceruloplasmin and genetic analysis. It provides clarity to patients with ambiguous genetic results, aiding significantly in noninvasive diagnosis. A proposed diagnostic score and algorithm incorporating ATP7B peptide concentrations can be a rapid supplement to current Leipzig scoring systems.

GASTROENTEROLOGY (2021)

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Article Gastroenterology & Hepatology

Long term results of liver transplantation for alpha-1 antitrypsin deficiency

Olivier Guillaud et al.

Summary: This retrospective study reviewed the medical records of 90 pediatric and adult patients who underwent liver transplantation for A1AT deficiency between 1982 and 2017 in France and Geneva. The study found that liver transplantation provided very good patient and graft survival rates for patients with end-stage liver disease or HCC secondary to A1AT deficiency.

DIGESTIVE AND LIVER DISEASE (2021)

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Article Medicine, General & Internal

Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

Wei-Yuan Fang et al.

Summary: This study reviewed the outcomes of 41 pediatric WDALF patients and evaluated the performance of different prognostic models in this cohort. Most patients were able to survive without liver transplantation when given D-penicillamine and zinc therapy.

WORLD JOURNAL OF CLINICAL CASES (2021)

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Article Endocrinology & Metabolism

Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease

Elodie Jacquelet et al.

Summary: In patients with Wilson's disease, adherence is correlated with factors such as age at diagnosis, age at inclusion in the study, form of the disease, duration of treatment, etc. Patients with low adherence have higher levels of exchangeable copper and a lower average age. Patients with a neurological form of the disease are more likely to have high adherence, while asymptomatic patients are more likely to have low adherence.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Review Clinical Neurology

Wilson's disease: update on pathogenesis, biomarkers and treatments

Samuel Shribman et al.

Summary: Wilson's disease is a disorder of copper metabolism caused by mutations in ATP7B, affecting neurological, psychiatric, ophthalmological, and hepatic manifestations. Despite understanding genetic and molecular mechanisms, reasons for the development of neurological or psychiatric features in some patients remain unclear. Pathological processes of copper accumulation leading to neurodegeneration involve mitochondrial dysfunction and brain iron metabolism.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2021)

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Review Oncology

Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features

Shannon M. Schroeder et al.

Summary: Wilson disease is a rare condition characterized by copper accumulation in the liver and brain. Diagnosis and treatment of Wilson disease are crucial, but distinguishing it from other liver diseases remains challenging.

ANNALS OF TRANSLATIONAL MEDICINE (2021)

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Review Gastroenterology & Hepatology

Alpha-1 antitrypsin deficiency liver disease

Dhiren Patel et al.

Summary: The clinical presentation of liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency is highly variable, with neonatal cholestatic hepatitis being the most common pediatric presentation. Diagnosis of AAT deficiency is determined through analysis of AAT protein phenotype in patient serum or their DNA genotype. Treatment currently focuses on supportive care, with liver transplant being required in rare cases.

TRANSLATIONAL GASTROENTEROLOGY AND HEPATOLOGY (2021)

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Review Genetics & Heredity

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

Susana Seixas et al.

Summary: Alpha-1-Antitrypsin Deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend. The condition is characterized by reduced levels of alpha-1-antitrypsin (AAT) and associated with increased risks of pulmonary emphysema and liver disease. AATD clinical manifestations are often correlated with specific pathogenic variants and large sequencing efforts have revealed numerous rare SERPINA1 variants.

APPLICATION OF CLINICAL GENETICS (2021)

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Article Chemistry, Analytical

Biomedical copper speciation in relation to Wilson's disease using strong anion exchange chromatography coupled to triple quadrupole inductively coupled plasma mass spectrometry

Nikolay Solovyev et al.

ANALYTICA CHIMICA ACTA (2020)

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Article Gastroenterology & Hepatology

Non-invasive diagnosis of cirrhosis and long-term disease monitoring by transient elastography in patients with Wilson disease

Rafael Paternostro et al.

LIVER INTERNATIONAL (2020)

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Letter Critical Care Medicine

Prevalence of Anti-Neutrophil Cytoplasmic Antibodies and Associated Vasculitis in COPD Associated With Alpha-1 Antitrypsin Deficiency An Ancillary Study to a Prospective Study on 180 French Patients

Samuel Deshayes et al.

CHEST (2020)

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Article Medical Laboratory Technology

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology

Stefania Ottaviani et al.

JOURNAL OF CLINICAL LABORATORY ANALYSIS (2020)

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Article Clinical Neurology

Semiquantitative Scale for Assessing Brain MRI Abnormalities in Wilson Disease: A Validation Study

Petr Dusek et al.

MOVEMENT DISORDERS (2020)

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Review Medicine, General & Internal

Alpha1-Antitrypsin Deficiency

Pavel Strnad et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

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Article Gastroenterology & Hepatology

Alpha1-Antitrypsin Deficiency A Cause of Chronic Liver Disease

Vignan Manne et al.

CLINICS IN LIVER DISEASE (2020)

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Review Clinical Neurology

Wilson disease

Annu Aggarwal et al.

CURRENT OPINION IN NEUROLOGY (2020)

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Article Gastroenterology & Hepatology

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

Samuel Shribman et al.

JHEP REPORTS (2020)

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Article Gastroenterology & Hepatology

Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis

Pavel Strnad et al.

GUT (2019)

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Article Gastroenterology & Hepatology

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease

Peter Ferenci et al.

HEPATOLOGY (2019)

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Article Gastroenterology & Hepatology

Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype

Anna Kluska et al.

LIVER INTERNATIONAL (2019)

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Article Radiology, Nuclear Medicine & Medical Imaging

Brain magnetic resonance spectroscopy (MRS) as a diagnostic tool for detecting early neurological changes in children with Wilson's disease

Mohammad Abd Alkhalik Basha et al.

EUROPEAN JOURNAL OF RADIOLOGY (2019)

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Article Gastroenterology & Hepatology

Liver disease in adults with severe alpha-1-antitrypsin deficiency

Hanan A. Tanash et al.

JOURNAL OF GASTROENTEROLOGY (2019)

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Article Endocrinology & Metabolism

Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment

Jan Pfeiffenberger et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2019)

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Article Gastroenterology & Hepatology

Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation

Karim Hamesch et al.

GASTROENTEROLOGY (2019)

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Review Critical Care Medicine

Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians

Alessandro N. Franciosi et al.

LANCET RESPIRATORY MEDICINE (2019)

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Review Oncology

Clinical manifestations of Wilson disease in organs other than the liver and brain

Karolina Dziezyc-Jaworska et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Review Oncology

Challenges in the diagnosis of Wilson disease

Aurelia Poujois et al.

ANNALS OF TRANSLATIONAL MEDICINE (2019)

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Article Gastroenterology & Hepatology

Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort

Mathias Ruiz et al.

LIVER INTERNATIONAL (2019)

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Letter Gastroenterology & Hepatology

Heterozygosity for the Alpha-1-Antitrypsin Z Allele in Cirrhosis Is Associated With More Advanced Disease

Franziska Meister et al.

LIVER TRANSPLANTATION (2019)

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Article Gastroenterology & Hepatology

Assessment of liver fibrosis by transient elastography (Fibroscan®) in patients with A1AT deficiency

Olivier Guillaud et al.

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY (2019)

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Article Gastroenterology & Hepatology

Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease

Olivier Guillaud et al.

LIVER INTERNATIONAL (2018)

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Article Biochemistry & Molecular Biology

Evaluation of the accuracy of exchangeable copper and relative exchangeable copper (REC) in a mouse model of Wilson's disease

Sophie Heissat et al.

JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2018)

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Article Gastroenterology & Hepatology

Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease

Anna Czlonkowska et al.

LIVER INTERNATIONAL (2018)

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Article Multidisciplinary Sciences

Comparison of non-invasive assessment of liver fibrosis in patients with alpha1-antitrypsin deficiency using magnetic resonance elastography (MRE), acoustic radiation force impulse (ARFI) Quantification, and 2D-shear wave elastography (2D-SWE)

Rolf Reiter et al.

PLOS ONE (2018)

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Article Gastroenterology & Hepatology

Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort

Virginia C. Clark et al.

JOURNAL OF HEPATOLOGY (2018)

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Article Medicine, General & Internal

Wilson disease

Anna Czlonkowska et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

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Article Clinical Neurology

Exchangeable copper: a reflection of the neurological severity in Wilson's disease

A. Poujois et al.

EUROPEAN JOURNAL OF NEUROLOGY (2017)

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Article Medical Laboratory Technology

The role of calculated non-caeruloplasmin-bound copper in Wilson's disease

Andrew Duncan et al.

ANNALS OF CLINICAL BIOCHEMISTRY (2017)

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Article Respiratory System

European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency

Marc Miravitlles et al.

EUROPEAN RESPIRATORY JOURNAL (2017)

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Article Ophthalmology

Evaluation of Kayser-Fleischer ring in Wilson disease by anterior segment optical coherence tomography

Mittanamalli S. Sridhar et al.

INDIAN JOURNAL OF OPHTHALMOLOGY (2017)

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Article Gastroenterology & Hepatology

Individual patient data meta-analysis of controlled attenuation parameter (CAP) technology for assessing steatosis

Thomas Karlas et al.

JOURNAL OF HEPATOLOGY (2017)

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Review Medicine, General & Internal

Use of Liver Imaging and Biopsy in Clinical Practice

Elliot B. Tapper et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

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Article Respiratory System

Alpha-1 antitrypsin PiZ gene frequency and PiZZ genotype numbers worldwide: an update

Ignacio Blanco et al.

INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE (2017)

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Article Gastroenterology & Hepatology

Wilson Disease Diagnosis, Treatment, and Follow-up

Michael L. Schilsky

CLINICS IN LIVER DISEASE (2017)

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Article Surgery

Liver Involvement in Patients With PiZZ-Emphysema, Candidates for Lung Transplantation

L. Morer et al.

AMERICAN JOURNAL OF TRANSPLANTATION (2017)

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Article Clinical Neurology

The sunflower cataract in Wilson's disease: pathognomonic sign or rare finding?

Ewa Langwinska-Wosko et al.

ACTA NEUROLOGICA BELGICA (2016)

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Article Acoustics

Transient Elastography of the Liver in Children with Wilson's Disease: Preliminary Results

Ana Cristina Stefanescu et al.

JOURNAL OF CLINICAL ULTRASOUND (2016)

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Article Gastroenterology & Hepatology

Magnetic resonance elastography identifies fibrosis in adults with alpha-1 antitrypsin deficiency liver disease: a prospective study

R. G. Kim et al.

ALIMENTARY PHARMACOLOGY & THERAPEUTICS (2016)

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Article Gastroenterology & Hepatology

Update on alpha-1 antitrypsin deficiency: New therapies

David A. Lomas et al.

JOURNAL OF HEPATOLOGY (2016)

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Article Medicine, General & Internal

α1-Antitrypsin deficiency

Catherine M. Greene et al.

NATURE REVIEWS DISEASE PRIMERS (2016)

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Article Radiology, Nuclear Medicine & Medical Imaging

The Timing and Presentation of Major Hemorrhage After 18,947 Image-Guided Percutaneous Biopsies

Thomas D. Atwell et al.

AMERICAN JOURNAL OF ROENTGENOLOGY (2015)

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Article Gastroenterology & Hepatology

Liver Biopsy in Children: Position Paper of the ESPGHAN Hepatology Committee

Antal Dezsofi et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2015)

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Article Gastroenterology & Hepatology

EASL Clinical Practice Guidelines: Wilson’s disease

JOURNAL OF HEPATOLOGY (2015)

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Article Gastroenterology & Hepatology

Hepatobiliary malignancies in Wilson disease

Jan Pfeiffenberger et al.

LIVER INTERNATIONAL (2015)

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Article Gastroenterology & Hepatology

Alpha-1 antitrypsin deficiency and the risk of hepatocellular carcinoma in end-stage liver disease

Clara Antoury et al.

WORLD JOURNAL OF HEPATOLOGY (2015)

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Article Gastroenterology & Hepatology

Long-term Outcomes of Patients With Wilson Disease in a Large Austrian Cohort

Sandra Beinhardt et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2014)

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Article Gastroenterology & Hepatology

Long term results of liver transplantation for Wilson's disease: Experience in France

Olivier Guillaud et al.

JOURNAL OF HEPATOLOGY (2014)

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Article Pathology

α1-Antitrypsin PiMZ heterozygosity has an independent aggravating effect on liver fibrosis in alcoholic liver disease

Diane Goltz et al.

VIRCHOWS ARCHIV (2014)

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Article Critical Care Medicine

Prevalence and Risk Factors for Liver Involvement in Individuals with PiZZ-related Lung Disease

Muhammad F. Dawwas et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2013)

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Article Clinical Neurology

A genetic study of Wilson's disease in the United Kingdom

Alison J. Coffey et al.

BRAIN (2013)

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Article Gastroenterology & Hepatology

Outcomes for Recipients of Liver Transplantation for Alpha-1-Antitrypsin Deficiency-Related Cirrhosis

Elizabeth J. Carey et al.

LIVER TRANSPLANTATION (2013)

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Article Medicine, General & Internal

The acute haemolytic syndrome in Wilson's disease-a review of 22 patients

J. M. Walshe

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2013)

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Article Gastroenterology & Hepatology

Liver Test Results Do Not Identify Liver Disease in Adults With α1-Antitrypsin Deficiency

Virginia C. Clark et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2012)

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Article Gastroenterology & Hepatology

Non-invasive assessment of hepatic fibrosis in a series of patients with Wilson's Disease

Margherita Sini et al.

DIGESTIVE AND LIVER DISEASE (2012)

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Article Gastroenterology & Hepatology

Non-invasive evaluation of hepatic manifestation in Wilson disease with transient elastography, ARFI, and different fibrosis scores

Thomas Karlas et al.

SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2012)

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Article Medical Laboratory Technology

Twenty-four-hour urinary trace element excretion: reference intervals and interpretive issues

Christine E. Sieniawska et al.

ANNALS OF CLINICAL BIOCHEMISTRY (2012)

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Article Gastroenterology & Hepatology

Unique CT imaging findings of liver in Wilson's disease

Weixia Li et al.

ABDOMINAL IMAGING (2011)

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Article Medical Laboratory Technology

Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson's disease diagnosis

Souleiman El Balkhi et al.

CLINICA CHIMICA ACTA (2011)

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Article Medicine, General & Internal

The pattern of urinary copper excretion and its response to treatment in patients with Wilson's disease

J. M. Walshe

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2011)

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Article Gastroenterology & Hepatology

The liver in 30-year-old individuals with alpha1-antitrypsin deficiency

E. Bernspang et al.

SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2009)

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Article Medical Laboratory Technology

Diagnostic accuracy of serum ceruloplasmin in Wilson disease:: Determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects

Chloe M. Mak et al.

CLINICAL CHEMISTRY (2008)

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Article Gastroenterology & Hepatology

Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests

Jessica D. Korman et al.

HEPATOLOGY (2008)

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Review Gastroenterology & Hepatology

Diagnosis and treatment of Wilson disease: An update

Eve A. Roberts et al.

HEPATOLOGY (2008)

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Article Gastroenterology & Hepatology

Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children

Thomas Mueller et al.

JOURNAL OF HEPATOLOGY (2007)

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Article Gastroenterology & Hepatology

Late-onset Wilson's disease

Peter Ferenci et al.

GASTROENTEROLOGY (2007)

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Review Medicine, General & Internal

Wilson's disease

Aftab Ala et al.

LANCET (2007)

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Review Radiology, Nuclear Medicine & Medical Imaging

Liver imaging findings of Wilson's disease

Erhan Akpinar et al.

EUROPEAN JOURNAL OF RADIOLOGY (2007)

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Article Gastroenterology & Hepatology

Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study

U. Merle et al.

GUT (2007)

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Review Pathology

Wilson disease

C Langner et al.

VIRCHOWS ARCHIV (2004)

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Article Gastroenterology & Hepatology

Diagnosis and phenotypic classification of Wilson disease

P Ferenci et al.

LIVER INTERNATIONAL (2003)

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