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, 2115-2120. 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
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