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1. Full Text Diagnosis and treatment of Wilson disease: An update
by Roberts, Eve A and Schilsky, Michael L and American Association for Study of Liver Diseases (AASLD)
Hepatology, ISSN 0270-9139, 06/2008, Volume 47, Issue 6, pp. 2089 - 2111
SINGLE-CENTER EXPERIENCE | NEUROLOGICALLY AFFECTED PATIENTS | ORTHOTOPIC LIVER-TRANSPLANTATION | CHRONIC ACTIVE HEPATITIS | ORAL ZINC THERAPY | PIGMENTED CORNEAL RINGS | URINARY COPPER EXCRETION | TRIETHYLENE TETRAMINE DIHYDROCHLORIDE | FULMINANT HEPATIC-FAILURE | GASTROENTEROLOGY & HEPATOLOGY | LONG-TERM TREATMENT | Hepatolenticular Degeneration - therapy | Copper-transporting ATPases | Humans | Liver - metabolism | Copper - metabolism | Hepatolenticular Degeneration - diagnosis | Cation Transport Proteins - genetics | Adenosine Triphosphatases - genetics | Hepatolenticular Degeneration - genetics | Mutation - genetics
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2. Full Text ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries
by Kwo, Paul Y and Cohen, Stanley M and Lim, Joseph K
American Journal of Gastroenterology, ISSN 0002-9270, 01/2017, Volume 112, Issue 1, pp. 18 - 35
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase... 
UNITED-STATES | TRANSPEPTIDASE ACTIVITY | AMERICAN ASSOCIATION | GAMMA-GLUTAMYL-TRANSFERASE | CHRONIC HEPATITIS-C | SERUM ALANINE AMINOTRANSFERASE | TRANSAMINASE-ACTIVITY | CORONARY-HEART-DISEASE | ALPHA-1-ANTITRYPSIN DEFICIENCY | GASTROENTEROLOGY & HEPATOLOGY | UPPER LIMITS | Non-alcoholic Fatty Liver Disease - pathology | Liver - pathology | Humans | Hemochromatosis - blood | Liver Diseases - pathology | Hepatolenticular Degeneration - diagnosis | Alanine Transaminase - blood | Liver Diseases, Alcoholic - diagnosis | Hemochromatosis - pathology | Hepatitis, Viral, Human - blood | Hepatitis, Autoimmune - pathology | Non-alcoholic Fatty Liver Disease - blood | Chemical and Drug Induced Liver Injury - blood | Chemical and Drug Induced Liver Injury - pathology | alpha 1-Antitrypsin Deficiency - pathology | Alkaline Phosphatase - blood | Liver Diseases - blood | Liver Diseases, Alcoholic - pathology | Hepatitis, Autoimmune - diagnosis | Liver - metabolism | Cholestasis - diagnosis | Hepatolenticular Degeneration - blood | Chemical and Drug Induced Liver Injury - diagnosis | Hepatitis, Viral, Human - pathology | alpha 1-Antitrypsin Deficiency - diagnosis | Cholestasis - blood | alpha 1-Antitrypsin Deficiency - blood | Cholestasis - pathology | Bilirubin - blood | Hepatolenticular Degeneration - pathology | Aspartate Aminotransferases - blood | Biopsy | Hepatitis, Autoimmune - blood | Non-alcoholic Fatty Liver Disease - diagnosis | Liver Diseases - diagnosis | Hemochromatosis - diagnosis | Hepatitis, Viral, Human - diagnosis | Liver Diseases, Alcoholic - blood
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3. Full Text Wilson's disease and other neurological copper disorders
by Bandmann, Oliver, Prof and Weiss, Karl Heinz, MD and Kaler, Stephen G, MD
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 1, pp. 103 - 113
Summary The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's disease can present with hepatic and neurological deficits,... 
Neurology | LIVER-TRANSPLANTATION | FOLLOW-UP | IRON | SYMPTOMS | MUTATIONS | BRAIN MRI | DYSTONIA | ATP7B GENE | ONSET | CLINICAL NEUROLOGY | PARKINSONS-DISEASE | Hepatolenticular Degeneration - diagnosis | Nervous System Diseases - metabolism | Hepatolenticular Degeneration - therapy | Hepatolenticular Degeneration - genetics | Humans | Copper - metabolism | Neurosciences | Proteins | Oxidative stress | Free radicals | Liver | Clinical trials | Mutation | Metabolism | Alzheimers disease | Age
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4. Full Text Diagnosis and phenotypic classification of Wilson disease
by Ferenci, Peter and Caca, Karel and Loudianos, Georgios and Mieli-Vergani, Georgina and Tanner, Stuart and Sternlieb, Irmin and Schilsky, Michael and Cox, Diane and Berr, Frieder
Liver International, ISSN 1478-3223, 06/2003, Volume 23, Issue 3, pp. 139 - 142
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic... 
CHALLENGE | MUTATIONS | GENE | GASTROENTEROLOGY & HEPATOLOGY | COPPER TRANSPORTING ATPASE | Hepatolenticular Degeneration - diagnosis | Adult | Child | Humans | Adolescent | Hepatolenticular Degeneration - classification
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5. Full Text Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment
by Rosencrantz, Richard and Schilsky, Michael
Seminars in Liver Disease, ISSN 0272-8087, 08/2011, Volume 31, Issue 3, pp. 245 - 259
ABSTRACT Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of “lenticular degeneration” in the... 
ceruloplasmin | copper | ATP7B | Wilson disease | Kayser-Fleischer rings | ACUTE LIVER-FAILURE | ADSORBENTS RECIRCULATING SYSTEM | MUTATION ANALYSIS | VITAMIN-E | RAT HEPATOCYTES | TRANSPLANTATION | CHILDREN | PENICILLAMINE THERAPY | HEPATIC COPPER | GASTROENTEROLOGY & HEPATOLOGY | ATP7B GENE | Prognosis | Copper-transporting ATPases | Humans | Hepatolenticular Degeneration - diagnosis | Antioxidants - therapeutic use | Central Nervous System Diseases - etiology | Copper - metabolism | Cation Transport Proteins - genetics | Hepatolenticular Degeneration - drug therapy | Adenosine Triphosphatases - genetics | Hepatolenticular Degeneration - genetics | Chelating Agents - therapeutic use | Copper - urine | Hepatolenticular Degeneration - complications | Hepatolenticular Degeneration - metabolism
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6. Full Text EASL Clinical Practice Guidelines: Wilson's disease
by Ferenci, Peter and Czlonkowska, Anna and Stremmel, Wolfgang and Houwen, Roderick and Rosenberg, William and Schilsky, Michael and Jansen, Peter and Moradpour, Darius and Gitlin, Jonathan and European Assoc Study Liver and European Association for Study of Liver
Journal of Hepatology, ISSN 0168-8278, 03/2012, Volume 56, Issue 3, pp. 671 - 685
This Clinical Practice Guideline (CPG) has been developed to assist physicians and other healthcare providers in the diagnosis and management of patients with... 
ACUTE LIVER-FAILURE | MUTATION ANALYSIS | AMMONIUM TETRATHIOMOLYBDATE | HEPATIC COPPER | URINARY COPPER EXCRETION | DIAGNOSTIC-CRITERIA | JAPANESE PATIENTS | GASTROENTEROLOGY & HEPATOLOGY | LONG-TERM TREATMENT | D-PENICILLAMINE | EVOKED-POTENTIALS | Hepatolenticular Degeneration - diagnosis | Liver Diseases - therapy | Liver Diseases - diagnosis | Hepatolenticular Degeneration - therapy | Gastroenterology - standards | Humans | Practice guidelines (Medicine) | Wilson's disease
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7. Full Text Clinical presentation, diagnosis and long-term outcome of Wilson's disease: A cohort study
by Merle, U and Schaefer, M and Ferenci, P and Stremmel, W
Gut, ISSN 0017-5749, 01/2007, Volume 56, Issue 1, pp. 115 - 120
Background: Wilson's disease is a rare inborn disease related to copper storage, leading to liver cirrhosis and neuropsychological deterioration. Clinical data... 
GENOTYPE-PHENOTYPE CORRELATION | ATP7B | MANAGEMENT | GENE | ATPASE | CONSEQUENCES | H1069Q MUTATION | GASTROENTEROLOGY & HEPATOLOGY | ZINC | Liver - pathology | Copper-transporting ATPases | Copper - blood | Humans | Middle Aged | Trace Elements - therapeutic use | Child, Preschool | Hepatolenticular Degeneration - diagnosis | Infant | Male | DNA Mutational Analysis - methods | Trientine - therapeutic use | Ceruloplasmin - analysis | Adult | Cation Transport Proteins - genetics | Female | Hepatolenticular Degeneration - drug therapy | Retrospective Studies | Chelating Agents - therapeutic use | Child | Liver - metabolism | Genotype | Treatment Outcome | Penicillamine - therapeutic use | Zinc - therapeutic use | Phenotype | Adolescent | Adenosine Triphosphatases - genetics | Hepatolenticular Degeneration - genetics | Copper - urine | Cohort Studies | Symptomatology | Development and progression | Research | Diagnosis | Wilson's disease | Nuclear magnetic resonance--NMR | Mutation | Chelating agents | Copper | Liver cirrhosis | Patients | Failure | Liver
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8. Full Text Acquired hepatocerebral degeneration
by Ferrara, J and Jankovic, J
Journal of Neurology, ISSN 0340-5354, 3/2009, Volume 256, Issue 3, pp. 320 - 332
Cirrhosis and its co-morbidities may cause a variety of neurological complications, the most common being bouts of toxic metabolic encephalopathy. A proportion... 
Neurology | portosystemic shunt | Neurosciences | movement disorder | Medicine & Public Health | Neuroradiology | acquired hepatocerebral degeneration | cirrhosis | Cirrhosis | Portosystemic shunt | Acquired hepatocerebral degeneration | Movement disorder | PORTAL-SYSTEMIC SHUNT | HYPERINTENSE GLOBUS-PALLIDUS | HEREDITARY HEMORRHAGIC TELANGIECTASIA | HEMOLYTIC-UREMIC SYNDROME | MAGNETIC-RESONANCE IMAGES | MANGANESE-INDUCED PARKINSONISM | CHRONIC HEPATIC-ENCEPHALOPATHY | CLINICAL NEUROLOGY | CHRONIC LIVER-FAILURE | POSITRON-EMISSION-TOMOGRAPHY | LANGERHANS CELL HISTIOCYTOSIS | Diagnosis, Differential | Humans | Brain - pathology | Hepatolenticular Degeneration - diagnosis | Liver Diseases - complications | Female | Hepatolenticular Degeneration - physiopathology | Aged | Chronic Disease | Hepatolenticular Degeneration - etiology | Complications and side effects | Nervous system diseases | Care and treatment | Liver diseases | Research | Diagnosis | Risk factors | Index Medicus
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9. Wilson Disease: Diagnosis, Treatment, and Follow-up
by Schilsky, Michael L
Clinics in Liver Disease, ISSN 1089-3261, 11/2017, Volume 21, Issue 4, pp. 755 - 767
Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. In association with other... 
Ceruloplasmin | Liver failure | Wilson disease | Copper | LIVER-TRANSPLANTATION | THERAPY | RATS | MYELOPATHY | TRIENTINE | GASTROENTEROLOGY & HEPATOLOGY | COPPER DEFICIENCY | CHILDREN | Hepatolenticular Degeneration - therapy | Liver - pathology | Liver Transplantation | Humans | Hepatolenticular Degeneration - diagnosis | Liver Failure, Acute - etiology | Penicillamine - therapeutic use | Trientine - therapeutic use | Aftercare | Biopsy | Copper - metabolism | Liver Failure, Acute - surgery | Ceruloplasmin - metabolism | Copper-transporting ATPases - genetics | Disease Management | Hepatolenticular Degeneration - genetics | Chelating Agents - therapeutic use | Hepatolenticular Degeneration - complications
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10. Full Text Update on the Diagnosis and Management of Wilson Disease
by Roberts, Eve A
Current gastroenterology reports, 11/2018, Volume 20, Issue 12, p. 56
Exciting developments relating to Wilson disease (WD) have taken place with respect to both basic biological and clinical research. This review critically... 
Hepatolenticular Degeneration - therapy | Humans | Copper - metabolism | Hepatolenticular Degeneration - diagnosis | Hepatolenticular Degeneration - genetics | Hepatolenticular Degeneration - metabolism
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11. Full Text A genetic study of Wilson's disease in the United Kingdom
by Coffey, Alison J and Durkie, Miranda and Hague, Stephen and McLay, Kirsten and Emmerson, Jennifer and Lo, Christine and Klaffke, Stefanie and Joyce, Christopher J and Dhawan, Anil and Hadzic, Nedim and Mieli-Vergani, Giorgina and Kirk, Richard and Elizabeth Allen, K and Nicholl, David and Wong, Siew and Griffiths, William and Smithson, Sarah and Giffin, Nicola and Taha, Ali and Connolly, Sally and Gillett, Godfrey T and Tanner, Stuart and Bonham, Jim and Sharrack, Basil and Palotie, Aarno and Rattray, Magnus and Dalton, Ann and Bandmann, Oliver
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 5, pp. 1476 - 1487
Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to... 
Wilson's disease | ATP7B | genetic prevalence | POPULATION | FREQUENCIES | COPPER TRANSPORTER | PHENOTYPE | IDENTIFICATION | 2 CONSECUTIVE GENERATIONS | MUTATIONAL ANALYSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | CONSEQUENCES | ATP7B GENE | Copper-transporting ATPases | Humans | Hepatolenticular Degeneration - diagnosis | Male | Mutation - genetics | Genetic Testing - methods | Hepatolenticular Degeneration - epidemiology | Pedigree | Cation Transport Proteins - genetics | Female | Adenosine Triphosphatases - genetics | Hepatolenticular Degeneration - genetics | Retrospective Studies | United Kingdom - epidemiology | Cohort Studies
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12. Full Text Near-infrared fluorescent sensor for in vivo copper imaging in a murine Wilson disease model
by Tasuku Hirayama and Genevieve C. Van de Bittner and Lawrence W. Gray and Svetlana Lutsenko and Christopher J. Chang
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2012, Volume 109, Issue 7, pp. 2228 - 2233
Copper is an essential metal nutrient that is tightly regulated in the body because loss of its homeostasis is connected to severe diseases such as Menkes and... 
Disease models | Imaging | Liver | Fluorescence | Mice | Hepatolenticular degeneration | Sensors | Copper | Cells | Vehicles | Molecular imaging | Diagnostic | Near-infrared fluorophore | Metal homeostasis | CELLS | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | MECHANISMS | PRION | molecular imaging | near-infrared fluorophore | DNAZYME | TRANSPORT | INDICATORS | BIOLOGY | CHEMISTRY | metal homeostasis | diagnostic | ACCUMULATION | Hepatolenticular Degeneration - diagnosis | Animals | Fluorescent Dyes | Copper - metabolism | Disease Models, Animal | Usage | Copper in the body | Models | Diagnosis | Biosensors | Properties | Wilson's disease | Biological Sciences | Physical Sciences
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