2025
Contributors for Volume 2
Agarwal A, Al lami Z, Ala A, Anand A, Anirvan P, Arab J, Bagwan I, Bahure U, Baloji A, Bataller R, Batsis I, Behera M, Berlinrut I, Bhamidimarri K, Bhongade M, Bhujade H, Bucuvalas J, Chayanupatkul M, Clemente-Sanchez A, Cussen C, De A, Dieterich D, DiNorcia J, Dunn W, Duseja A, Sabagh A, Talkhan M, Em M, Gupta S, Huisman T, Ilyas F, Jain S, Jalal P, Kalra N, Kamani L, Khandelwal R, Khuroo M, Khuroo N, Kim E, Yin J, Maiwall R, Mallakmir S, Mehta H, Mohamed I, Molmenti A, Molmenti E, Nagral A, Nair V, Odin J, Panigrahi M, Polanco N, Prachanronarong K, Praharaj D, Raja K, Satapathy S, Schiano T, Schilsky M, Singal A, Singh S, Smith R, To U, Vanatta J, Wallach F, ZainAloor F. Contributors for Volume 2. 2025, xxv-xxix. DOI: 10.1016/b978-0-443-26711-6.09992-3.Peer-Reviewed Original ResearchChapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
2024
Building Clinical and Research Delivery Networks: A Blue Print for Multidisciplinary Management and Consensus in Wilson Disease
Ala A, Liu Yin J, Schilsky M. Building Clinical and Research Delivery Networks: A Blue Print for Multidisciplinary Management and Consensus in Wilson Disease. GE Portuguese Journal Of Gastroenterology 2024, 1-3. DOI: 10.1159/000542402.Peer-Reviewed Original ResearchWilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretionAccurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS
Harrington C, Carpenter G, Coverdale J, Douglas L, Mills C, Willis K, Schilsky M. Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS. Clinical Chemistry And Laboratory Medicine 2024, 0 PMID: 39072400, DOI: 10.1515/cclm-2024-0213.Peer-Reviewed Original ResearchLimit of detectionWilson's diseaseIntra-day precisionCopper-containing speciesTriple quadrupole inductively coupled plasma mass spectrometryQuadrupole inductively coupled plasma mass spectrometryLimit of quantificationCopper concentrationGradient elutionReaction modeIntra-dayCu-EDTAContaining speciesMass spectrometryWilson's disease patientsInductively coupled plasma mass spectrometryIntermediate precisionSerum copper concentrationICP-MS/MSPlasma mass spectrometryRegistry studyUrine copperSerum copperPatient samplesBiomarker indexAn abbreviated history of liver transplantation
Schilsky M, Emre S. An abbreviated history of liver transplantation. Clinical Liver Disease 2024, 23: e0244. PMID: 38952697, PMCID: PMC11216664, DOI: 10.1097/cld.0000000000000244.Peer-Reviewed Original ResearchExamining the impact of the COVID-19 pandemic and psychosocial factors on disparities in access to liver transplantation: A retrospective analysis
Aniruddha D, Schilsky M, Zimbrean P. Examining the impact of the COVID-19 pandemic and psychosocial factors on disparities in access to liver transplantation: A retrospective analysis. Journal Of Psychosomatic Research 2024, 181: 111714. DOI: 10.1016/j.jpsychores.2024.111714.Peer-Reviewed Original ResearchWED-164 Interim safety results of the ongoing international phase I/II GATEWAY gene therapy trial with VTX-801 conducted in adult patients with Wilson disease
Sandahl T, Lee W, Ala A, Gonzalez-Peralta R, Medici V, Askari F, Rudnick S, Lauer U, Schmidt H, Valero S, Gonzalez G, Combal J, D'Antiga L, Benichou B, Schilsky M. WED-164 Interim safety results of the ongoing international phase I/II GATEWAY gene therapy trial with VTX-801 conducted in adult patients with Wilson disease. Journal Of Hepatology 2024, 80: s714-s715. DOI: 10.1016/s0168-8278(24)02021-x.Peer-Reviewed Original ResearchWilson Disease and the COVID-19 pandemic: exploring patients’ mental health and vaccination attitudes in a longitudinal study
Coskun A, Aydin A, Tosun S, To U, Rubman S, Schilsky M, Zimbrean P. Wilson Disease and the COVID-19 pandemic: exploring patients’ mental health and vaccination attitudes in a longitudinal study. Frontiers In Psychology 2024, 15: 1326802. PMID: 38803830, PMCID: PMC11129684, DOI: 10.3389/fpsyg.2024.1326802.Peer-Reviewed Original ResearchMental healthMental health of individualsMental health scalesCognitive functionVaccination ratesHealth of individualsQuality of lifeCOVID-19 pandemicStudy investigated stressLevels of stressHealth scaleChronic conditionsCOVID-19 perceptionsVaccine attitudesIncreased depressionIncome lossCOVID-19Exacerbate anxietyPositive attitudesLongitudinal studyEssential workersActive initiatorsAnxietyWD patientsDepressionNon-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets
Ott P, Sandahl T, Ala A, Cassiman D, Couchonnal-Bedoya E, Cury R, Czlonkowska A, Denk G, D’Inca R, de Assis Aquino Gondim F, Moore J, Poujois A, Twardowschy C, Weiss K, Zuin M, Kamlin C, Schilsky M. Non-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets. JHEP Reports 2024, 6: 101115. PMID: 39139457, PMCID: PMC11321293, DOI: 10.1016/j.jhepr.2024.101115.Peer-Reviewed Original ResearchNon-ceruloplasmin-bound copperUrinary copper excretionD-penicillamine therapyRecommended target rangeWD patientsWilson's diseaseSigns of copper deficiencyD-penicillamineBiochemical signsCopper excretionTarget rangeClinically stable diseaseTreatment of WDTreatment of patientsAnalysis of liver enzymesCopper deficiencyStable diseaseMaintenance therapyScreening visitUrinary copperTreated WDHealthy controlsNormal rangeProtein speciationRecommended targetsTaste and smell function in Wilson's disease
Salmon M, Cohen W, Hu F, Aydin A, Coskun A, Schilsky M, Doty R. Taste and smell function in Wilson's disease. Journal Of The Neurological Sciences 2024, 459: 122949. PMID: 38493734, DOI: 10.1016/j.jns.2024.122949.Peer-Reviewed Original ResearchWilson's diseaseSmell functionUniversity of Pennsylvania Smell Identification TestPennsylvania Smell Identification TestSmell test scoresSmell Identification TestAbnormal copper metabolismOlfactory dysfunctionWD patientsOlfactory functionNeurological symptomsControl subjectsPrimary medicationTaste functionPathophysiological mechanismsHealthy controlsLinear regression analysisMultiple linear regression analysisIdentification TestCopper metabolismPatientsNo effectTaste testRegression analysisDisease
2023
Effects of trientine and penicillamine on intestinal copper uptake: A mechanistic 64Cu PET/CT study in healthy humans
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Schilsky M, Ott P, Sandahl T. Effects of trientine and penicillamine on intestinal copper uptake: A mechanistic 64Cu PET/CT study in healthy humans. Hepatology 2023, 79: 1065-1074. PMID: 38088886, PMCID: PMC11019997, DOI: 10.1097/hep.0000000000000708.Peer-Reviewed Original ResearchUrinary copper excretionStandard uptake valueIntestinal copper absorptionUptake valueCopper excretionIntestinal absorptionPositron emission tomography/CT scanMean standard uptake valueSame therapeutic targetsPET/CT studiesVenous blood samplesCopper absorptionIntestinal copper uptakeEffects of drugsUrinary excretionCT scanHealthy volunteersBlood samplesHealthy humansTrientineTherapeutic targetBody weightCT studiesWilson's diseaseD-penicillamineEffects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Larsen A, Schilsky M, Ott P, Sandahl T. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. Journal Of Hepatology 2023, 80: 586-595. PMID: 38081365, DOI: 10.1016/j.jhep.2023.11.023.Peer-Reviewed Original ResearchEffect of tetrathiomolybdateWilson's diseaseBiliary copper excretionBiliary excretionHealthy volunteersCopper excretionWD patientsBis-choline tetrathiomolybdateNeurologic Wilson diseaseClinical trial numberPresent human studyTrial numberPET/CTCopper metabolismIntestinal copper uptakeMechanism of actionPET/MRINeurological worseningConventional therapyVenous bloodClinical trialsLower riskAnimal studiesHuman studiesCopper chelatorExamining the Impact of the COVID-19 Pandemic on Racial and Ethnic Disparities in Access to Liver Transplantation: A Retrospective Analysis
Deka A, Pegram D, Schilsky M, Zimbrean P. Examining the Impact of the COVID-19 Pandemic on Racial and Ethnic Disparities in Access to Liver Transplantation: A Retrospective Analysis. Journal Of The Academy Of Consultation-Liaison Psychiatry 2023, 64: s115. DOI: 10.1016/j.jaclp.2023.11.233.Peer-Reviewed Original ResearchS1564 Lessons in Monitoring Chelation Therapy in “Stable” Wilson Disease Patients Screened for a Randomized Trial
Medici V, Peralta R, Kamlin C, Heifets M, Schilsky M. S1564 Lessons in Monitoring Chelation Therapy in “Stable” Wilson Disease Patients Screened for a Randomized Trial. The American Journal Of Gastroenterology 2023, 118: s1180-s1181. DOI: 10.14309/01.ajg.0000955896.28554.ec.Peer-Reviewed Original ResearchP20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years
Camarata M, To U, Coskun A, Maciejewski K, Embel V, Ayhan E, Gonzalez-Peralta R, Ala A, Schilsky M. P20 Patterns of ALT, AST and 24-hour urine copper in adult patients with treated Wilson disease: results from an international multi-site registry at enrolment and over the course of 3 years. 2023, a25.1-a25. DOI: 10.1136/gutjnl-2023-basl.36.Peer-Reviewed Original ResearchP21 Monitoring maintenance therapy with D-Penicillamine for Wilson’s Disease: lessons from screening for a randomized trial
Ala A, Yin J, Moore J, Medici V, González-Peralta R, Kamlin C, Heifetz M, Ott P, Schilsky M. P21 Monitoring maintenance therapy with D-Penicillamine for Wilson’s Disease: lessons from screening for a randomized trial. 2023, a25.2-a26. DOI: 10.1136/gutjnl-2023-basl.37.Peer-Reviewed Original ResearchTHU-274 Effects of tetrathiomolybdate, trientine, and penicillamine on intestinal copper uptake: a randomized placebo-controlled 64Cu PET/CT study
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Schilsky M, Ott P, Sandahl T. THU-274 Effects of tetrathiomolybdate, trientine, and penicillamine on intestinal copper uptake: a randomized placebo-controlled 64Cu PET/CT study. Journal Of Hepatology 2023, 78: s958-s959. DOI: 10.1016/s0168-8278(23)03007-6.Peer-Reviewed Original ResearchTHU-309 Effects of tetrathiomolybdate on copper distribution and biliary excretion: a controlled 64CuCl2 PET/MRI
Kirk F, Munk D, Swenson E, Quicquaro A, Vendelbo M, Schilsky M, Ott P, Sandahl T. THU-309 Effects of tetrathiomolybdate on copper distribution and biliary excretion: a controlled 64CuCl2 PET/MRI. Journal Of Hepatology 2023, 78: s985. DOI: 10.1016/s0168-8278(23)03042-8.Peer-Reviewed Original Research
2022
Major Depressive Disorder in an International Multisite Wilson Disease Registry
Camarata M, Ala A, Coskun A, Deng Y, Embel V, Gonzalez-Peralta R, Maciejewski K, Patel A, Rubman S, To U, Tomlin R, Schilsky M, Zimbrean P. Major Depressive Disorder in an International Multisite Wilson Disease Registry. Journal Of The Academy Of Consultation-Liaison Psychiatry 2022, 64: 106-117. PMID: 36521682, DOI: 10.1016/j.jaclp.2022.12.001.Peer-Reviewed Original ResearchConceptsMajor depressive disorderWilson's diseaseDepressive disorderLifetime major depressive disorderMental health QOLPhysical health QoLMajor depressive episodeMental health qualityStructured psychiatric evaluationSignificant differencesCross-sectional reportsLiver testsLiver diseaseNeurological assessmentLife scoresClinical correlatesDepressive episodePsychiatric symptomsPsychiatric evaluationDisease RegistrySevere anxietyLaboratory testsLifetime historySignificant associationPatients