2017
Wilson Disease
Schilsky M, Ala A. Wilson Disease. 2017, 799-819. DOI: 10.1002/9781119251316.ch29.Peer-Reviewed Original ResearchWilson's diseaseExcellent patient survivalAcute liver failureCentral nervous systemAsymptomatic patientsBiliary copper excretionLiver transplantationPharmacologic treatmentSymptomatic patientsHepatic insufficiencyLiver failureMedical therapyLiver diseasePatient survivalHepatic diseasePsychiatric symptomsNervous systemBiochemical findingsCopper excretionDiseaseInherited disorderDisease-specific mutationsPatientsMutation analysisTreatment
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
1998
ATP7B (WND) protein
Terada K, Schilsky M, Miura N, Sugiyama T. ATP7B (WND) protein. The International Journal Of Biochemistry & Cell Biology 1998, 30: 1063-1067. PMID: 9785470, DOI: 10.1016/s1357-2725(98)00073-9.Peer-Reviewed Original ResearchConceptsATP7B proteinP-type ATPaseCopper transporterDisease-specific mutationsIntracellular traffickingKb transcriptSpecific mutationsProteinATP7BGenesGenetic disordersRecombinant adenovirusExcessive accumulationCopper metabolismRecent studiesWilson's diseaseExonsGene deliveryTraffickingKbTranscriptsTransportersMutationsATPase