2024
Wilson 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 assayPatientsExcretion
2023
Effects 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 chelator
2017
Wilson Disease
Schilsky M, Ala A. Wilson Disease. 2017, 799-819. DOI: 10.1002/9781119251316.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalAcute liver failureCentral nervous systemAsymptomatic patientsBiliary copper excretionLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyLiver diseasePatient survivalHepatic diseasePsychiatric symptomsNervous systemBiochemical findingsCopper excretionDiseaseInherited disorderDisease-specific mutationsPatientsMutation analysisTreatment
2011
Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment
Rosencrantz R, Schilsky M. Wilson Disease: Pathogenesis and Clinical Considerations in Diagnosis and Treatment. Seminars In Liver Disease 2011, 31: 245-259. PMID: 21901655, DOI: 10.1055/s-0031-1286056.Peer-Reviewed Original ResearchConceptsPathologic findingsWilson's diseaseHepatocyte cell transplantationLife-long treatmentInitiation of treatmentKayser-Fleischer ringsFirst-degree relativesPresence of signsBiliary copper excretionLiver transplantationMedical therapyLow ceruloplasminCell transplantationElevated urineLenticular degenerationHistologic changesDisease progressionClinical signsFatal disorderNeurologic diseaseAnimal modelsClinical considerationsCopper excretionDiseaseEarly detection
2009
Chapter 42 Wilson Disease and the Kidney
Schilsky M, Mistry P. Chapter 42 Wilson Disease and the Kidney. 2009, 709-713. DOI: 10.1016/b978-0-12-449851-8.00042-5.Peer-Reviewed Original ResearchLiver failureWilson's diseaseRenal injuryLower urine sodium excretionD-penicillamineDevelopment of oliguriaChronic liver failureUrine sodium excretionInitiation of therapyAcute liver failureYears of therapyCopper-chelating drugHepatic copper accumulationHepatorenal syndromeBiliary copper excretionLupus nephritisRenal dysfunctionSodium excretionTubular injuryRenal toxicityUrinary excretionRenal clearanceTubular defectsUrinary sedimentHigh incidence
2001
ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE
Emre S, Atillasoy E, Ozdemir S, Schilsky M, Varma C, Thung S, Sternlieb I, Guy S, Sheiner P, Schwartz M, Miller C. ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON’S DISEASE. Transplantation 2001, 72: 1232-1236. PMID: 11602847, DOI: 10.1097/00007890-200110150-00008.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationOne-year patientFulminant Wilson's diseaseLiver transplantationWilson's diseaseGraft survivalRenal failureDisease cureAcute renal failureLate postoperative complicationsChronic liver diseaseFulminant liver failureNormal liver functionLong-term survivalHepatic complicationsPost-OLTBiliary copper excretionPostoperative complicationsPatient agePatient demographicsSupportive careDisease recurrenceLiver failureLiver injuryMedical therapy
2000
Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion
Schilsky M, Irani A, Gorla G, Volenberg I, Gupta S. Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion. Journal Of Biochemical And Molecular Toxicology 2000, 14: 210-214. PMID: 10789499, DOI: 10.1002/(sici)1099-0461(2000)14:4<210::aid-jbt5>3.0.co;2-g.Peer-Reviewed Original ResearchConceptsBiliary copper excretionCopper excretionLong-Evans AgoutiHepatic massIntact animalsLEA ratsLEC ratsExcretion capacityMinute study periodTwo-thirds partial hepatectomyLong-Evans Cinnamon ratsBile collectionPathophysiological mechanismsNovel therapiesHepatocyte massExcretionRatsPartial hepatectomyTransient increaseStudy periodATP7B functionOne-third
1998
Wilson’s Disease
Schilsky M, Sternlieb I. Wilson’s Disease. Current Clinical Practice 1998, 285-292. DOI: 10.1007/978-1-4612-1808-1_21.Peer-Reviewed Original ResearchWilson's diseaseCell deathAutosomal recessive disorderBiliary copper excretionInflammatory changesHepatic insufficiencyLiver diseaseLiver injuryMinor abnormalitiesCell injuryCopper excretionAbnormal accumulationDiseaseAccumulation of copperInjuryRecessive disorderDisease mutationsDeathCopper metabolismLiverOrgansChromosome 13CirrhosisInflammationFibrosis