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
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 disorders