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
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