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, c12.7.2-c12.7.2.s26. 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
Chapter 15 General Considerations and the Need for Liver Transplantation
Camarata M, Weiss K, Schilsky M. Chapter 15 General Considerations and the Need for Liver Transplantation. 2019, 173-182. DOI: 10.1016/b978-0-12-811077-5.00015-3.Peer-Reviewed Original ResearchAcute liver failureLiver transplantationWilson's diseaseLiver failureMedical therapyUse of LTEnd-stage liver diseaseLive donor transplantsOnly viable treatment optionViable treatment optionCombination of dietRare autosomal recessive disorderAlternative transplant strategyWilson's disease patientsAutosomal recessive disorderAuxiliary transplantInitial presentationLiver diseaseMedical managementNeurological symptomsTransplant strategiesTreatment optionsDisease patientsDonor poolDisease progression
2018
Monitoring Treatment of Wilson Disease
Miloh T, Schilsky M. Monitoring Treatment of Wilson Disease. Clinical Gastroenterology 2018, 143-159. DOI: 10.1007/978-3-319-91527-2_8.Peer-Reviewed Original ResearchWilson's diseaseAdjustment of treatmentType of therapyBetter patient outcomesQuality of lifePhases of treatmentFrequency of monitoringNeurologic findingsMedical therapyKF ringLiver diseaseClinical statusUrine testingPhysical examPatient outcomesDietary restrictionPsychiatric findingsHealth statusCopper intakeTreatment monitoringAppropriate monitoringDiseaseCopper statusTreatmentTherapyTreatment Options for Wilson Disease
Kelly C, Pericleous M, Schilsky M. Treatment Options for Wilson Disease. Clinical Gastroenterology 2018, 45-61. DOI: 10.1007/978-3-319-91527-2_3.Peer-Reviewed Original ResearchWilson's diseaseMedical therapyTreatment of WDAsymptomatic patientsLiver transplantationSymptomatic patientsZinc therapyTreatment optionsPhysical therapyPhysician preferenceCopper intakeTherapyDietary changesPatientsMaintenance phaseTreatmentDiseaseCopper chelatorTransplantationDiagnosisIntakeSymptomatologyChapter 19 Wilson Disease and Related Disorders
Schilsky M. Chapter 19 Wilson Disease and Related Disorders. 2018, 253-268. DOI: 10.1016/b978-0-323-47874-8.00019-5.Peer-Reviewed Original ResearchMedical therapyWilson's diseaseRegression of diseaseCentral nervous systemLiver transplantationLiver failureLiver injuryDisease progressionNervous systemRelated disordersThird decadeDiseaseGenetic disordersCopper metabolismTherapyDisordersSecond decadeCopper accumulationCirrhosisTransplantationInjuryDiagnosisLiverProgression
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
Schilsky M, Tavill A. Wilson Disease. 2011, 803-824. DOI: 10.1002/9781119950509.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalSevere hepatic insufficiencyAcute liver failureUrine copper excretionKayser-Fleischer ringsHepatic copper concentrationAsymptomatic patientsLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyPatient survivalDisease progressionBiliary excretionBiochemical findingsToxic copper accumulationCopper excretionPatientsDiseaseCopper-transporting adenosine triphosphataseDisease-specific mutationsGenetic disordersWilson 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
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
1999
Wilson’s disease
Tavill A, Schilsky M. Wilson’s disease. Current Treatment Options In Gastroenterology 1999, 2: 68-71. PMID: 11096575, DOI: 10.1007/s11938-999-0021-6.Peer-Reviewed Original ResearchPharmacologic therapyWilson's diseaseOrthotopic liver transplantationFulminant hepatic failureLiver transplantationCompliant patientsPreventive therapyHepatic failureHepatic insufficiencyMedical therapyOrgan damageMaintenance treatmentTherapyPatientsDiseaseTransplantationPrognosisInsufficiencyDiagnosis
1994
Liver transplantation for Wilson's disease: Indications and outcome
Schilsky M, Scheinberg I, Sternlieb I. Liver transplantation for Wilson's disease: Indications and outcome. Hepatology 1994, 19: 583-587. PMID: 8119682, DOI: 10.1002/hep.1840190307.Peer-Reviewed Original ResearchConceptsOrthotopic liver transplantationLiver transplantationNeurological Wilson's diseaseHepatic insufficiencyWilson's diseaseFulminant hepatitisSevere hepatic insufficiencyManagement of patientsIntractable neurological diseasesNonfatal complicationsGastrointestinal hemorrhageVascular complicationsMedian survivalMedical therapyRetrospective reviewPsychiatric manifestationsStudy groupPsychiatric symptomsPatientsTransplantationNeurological diseasesInsufficiencyDiseaseTransplantHepatitis