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
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
2018
Wilson Disease: Special Circumstances
Camarata M, Schilsky M. Wilson Disease: Special Circumstances. Clinical Gastroenterology 2018, 175-181. DOI: 10.1007/978-3-319-91527-2_10.Peer-Reviewed Original ResearchTreatment 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 chelatorTransplantationDiagnosisIntakeSymptomatologyDiagnosis Confirmation and Screening of Wilson Disease
Pericleous M, Kelly C, Schilsky M. Diagnosis Confirmation and Screening of Wilson Disease. Clinical Gastroenterology 2018, 17-44. DOI: 10.1007/978-3-319-91527-2_2.Peer-Reviewed Original ResearchPartnering for Care of Wilson Disease
Graper M, Schilsky M. Partnering for Care of Wilson Disease. Clinical Gastroenterology 2018, 203-212. DOI: 10.1007/978-3-319-91527-2_12.Peer-Reviewed Original ResearchChapter 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
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosis
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