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
S1564 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 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 Research
2022
FRI297 Defining the boundaries for “stability” in Wilson disease patients on maintenance chelation therapy: lessons from the CHELATE trial
Kamlin C, Schilsky M, Ott P, Weiss K, Zuin M, Poujois A, Ala A, D’Hollander K. FRI297 Defining the boundaries for “stability” in Wilson disease patients on maintenance chelation therapy: lessons from the CHELATE trial. Journal Of Hepatology 2022, 77: s539. DOI: 10.1016/s0168-8278(22)01402-7.Peer-Reviewed Original Research
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
2015
Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease
Ala A, Aliu E, Schilsky ML. Prospective Pilot Study of a Single Daily Dosage of Trientine for the Treatment of Wilson Disease. Digestive Diseases And Sciences 2015, 60: 1433-1439. PMID: 25605552, PMCID: PMC4427615, DOI: 10.1007/s10620-014-3495-6.Peer-Reviewed Original ResearchMeSH KeywordsAdministration, OralAdultAgedChelating AgentsDrug Administration ScheduleFemaleHepatolenticular DegenerationHumansMaleMedication AdherenceMiddle AgedPatient DropoutsPatient SatisfactionPilot ProjectsProspective StudiesSurveys and QuestionnairesTime FactorsTreatment OutcomeTrientineYoung AdultConceptsSingle daily doseWilson's diseaseDaily doseDaily treatment regimenStable Wilson's diseaseProspective pilot studyLiver synthetic functionSingle daily dosageEnd of treatmentResultsAll patientsMaintenance therapyTreatment regimenDaily dosageLifelong therapyLarge trialsZinc excretionUrine copperTreatment stoppageSide effectsTreatment efficacyTrientineTherapyPatientsPilot studyDisease
2010
Wilson’s Disease
Schilsky M, Mitchell K. Wilson’s Disease. Molecular Pathology Library 2010, 5: 655-663. DOI: 10.1007/978-1-4419-7107-4_43.Peer-Reviewed Original ResearchWilson's diseaseAcute hepatic necrosisFuture human studiesAutosomal recessive disorderLiver transplantationClinical findingsHepatic necrosisPathological changesFuture therapiesAnimal modelsHuman studiesHepatocyte transplantationMolecular pathogenesisUltrastructural evaluationLiver tissueDiseaseClinical methodsRecessive disorderTransplantationCopper metabolismPathogenesisTherapyGene therapyDisordersMolecular diagnostics
2001
Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation?
Schilsky M. Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation? Current Gastroenterology Reports 2001, 3: 54-59. PMID: 11177695, DOI: 10.1007/s11894-001-0041-4.Peer-Reviewed Original ResearchConceptsWilson's diseaseSymptomatic patientsTreatment of choiceInitial therapyMaintenance therapyPregnant patientsCombination therapyZinc supplementationBest therapyNeurologic diseaseChelation therapyNext treatmentMedical treatmentPatientsTherapyDiseaseTrientineFurther studiesTreatmentMore effective alternativesEffective alternativeNew optionsPenicillamineLiverSupplementation
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