2024
Non-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 targets
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-penicillamine
2022
OS077 Clinical utility of non-ceruloplasmin copper determined by copper speciation for monitoring Wilson disease therapy: comparative data analysis with 24-hour urinary copper excretion from the CHELATE trial
Schilsky M, Poujois A, Zuin M, Ott P, Weiss K, Cassiman D, Ala A, Czlonkowska A, Dubois N, Amin N, Kamlin C. OS077 Clinical utility of non-ceruloplasmin copper determined by copper speciation for monitoring Wilson disease therapy: comparative data analysis with 24-hour urinary copper excretion from the CHELATE trial. Journal Of Hepatology 2022, 77: s61-s62. DOI: 10.1016/s0168-8278(22)00524-4.Peer-Reviewed Original Research
2020
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.Peer-Reviewed Original ResearchLiver diseaseCopper excretionHigh urinary copper excretionWilson's diseaseDecompensated liver diseasePrevious affected siblingFulminant hepatic failureUrinary copper excretionKayser-Fleischer ringsConnective tissue disordersLow serum ceruloplasminAge 3 yearsFunction mutationsDefective copper transportAutosomal recessive lossLiver copper contentSingle biochemical testFlorid presentationLiver transplantationHepatic failureMedical therapyClinical presentationClinical findingsUncommon disorderTypical presentation
2019
Wilson's Disease
Kelly C, Ala A, Schilsky M. Wilson's Disease. 2019, 554-573. DOI: 10.1002/9781119211419.ch37.Peer-Reviewed Original ResearchUrinary copper excretionWilson's diseaseCopper excretionFull neurological evaluationUrine copper excretionDiagnosis of WDMultiple medical specialtiesSingle diagnostic testMagnetic resonance imagingRange of presentationsAsymptomatic patientsNeurological evaluationUncommon conditionAsymptomatic siblingsChelation treatmentMolecular testingWD patientsResonance imagingDiagnostic testsPatientsDiseaseExcretionMedical specialtiesDiagnosisSymptom development