2025
Clinical and Genetic Profile of Pediatric and Adult Wilson Disease in India
Kulkarni A, Bale G, Vishnubotla R, Rambhatla A, Sharma M, Sabhapandit S, Chintam A, Alla M, Venishetty S, Iyengar S, Komalla R, Ramachandran S, Menon B, Kalapala R, Gupta R, Rao P, Reddy D, Schilsky M, Reddy K. Clinical and Genetic Profile of Pediatric and Adult Wilson Disease in India. Gastro Hep Advances 2025, 100717. DOI: 10.1016/j.gastha.2025.100717.Peer-Reviewed Original ResearchAcute-on-chronic liver failureTransplant-free survivalAcute liver failureLiver failureATP7B mutationsMedian duration of follow-upSingle-center retrospective studyGenetic profile of patientsTransjugular intrahepatic portosystemic shuntDuration of follow-upPathogenic ATP7B variantsLiving donor liver transplantationKaplan Meier analysisIntrahepatic portosystemic shuntDonor liver transplantationGenetic profileProfile of patientsDisorder of copper metabolismMedian durationDecompensated cirrhosisMeier analysisClinical presentationPediatric patientsPediatric groupLiver transplantationChanges in the FXR-cistrome and alterations in bile acid physiology in Wilson disease
Wooton-Kee C, Yalamanchili H, Mohamed I, Hassan M, Setchell K, Rivas M, Coskun A, Putluri V, Putluri N, Jalal P, Schilsky M, Moore D. Changes in the FXR-cistrome and alterations in bile acid physiology in Wilson disease. Hepatology Communications 2025, 9: e0707. PMID: 40408300, PMCID: PMC12106221, DOI: 10.1097/hc9.0000000000000707.Peer-Reviewed Original ResearchConceptsWild-type miceFarnesoid X receptorWilson's diseaseNon-parenchymal cellsDistal intergenic regionsLiver bile acid concentrationWD patientsHealthy controlsMetabolic target genesFarnesoid X Receptor RegulationBile salt export pumpIntergenic regionFXR activationAutosomal recessive disorderBile acid homeostasisBile acid physiologyFarnesoid X receptor activationPromoter regionHomeostasis pathwaysBile acid metabolismDecreasing FXR activityTarget genesBile acid profilesMarker genesStress pathwaysErratum: 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. Erratum: Effects of trientine and penicillamine on intestinal copper uptake: A mechanistic 64Cu PET/CT study in healthy humans. Hepatology 2025 PMID: 40421917, DOI: 10.1097/hep.0000000000001367.Peer-Reviewed Original ResearchSAT-404 Accuracy of non-invasive tools in excluding advanced fibrosis in Wilson disease: results from the Wilson disease registry and Barcelona cohorts
Mariño Z, To U, Mohr I, González-Peralta R, Harpavat S, Hahn S, Sandahl T, Ulcay A, Maras H, Keserci S, Maciejewski K, Deng Y, Schilsky M. SAT-404 Accuracy of non-invasive tools in excluding advanced fibrosis in Wilson disease: results from the Wilson disease registry and Barcelona cohorts. Journal Of Hepatology 2025, 82: s752-s753. DOI: 10.1016/s0168-8278(25)01964-6.Peer-Reviewed Original ResearchSAT-389 Comparison of three methodologies to measure bioavailable copper in patients with Wilson disease
Ott P, Sandahl T, Kamlin C, Harington C, Schilsky M. SAT-389 Comparison of three methodologies to measure bioavailable copper in patients with Wilson disease. Journal Of Hepatology 2025, 82: s747-s748. DOI: 10.1016/s0168-8278(25)01953-1.Peer-Reviewed Original ResearchContributors 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
Wilson Disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson Disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024, 45: 221-235. 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 assayPatientsExcretionBuilding Clinical and Research Delivery Networks: A Blue Print for Multidisciplinary Management and Consensus in Wilson Disease
Ala A, 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, 32: 75-77. PMID: 40171096, PMCID: PMC11961142, DOI: 10.1159/000542402.Peer-Reviewed Original ResearchAccurate 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, 63: 320-328. 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 Research
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