2025
Chapter 30 Wilson disease⊛
To U, Schilsky M. Chapter 30 Wilson disease⊛. 2025, 841-859. DOI: 10.1016/b978-0-443-26711-6.00030-5.Peer-Reviewed Original ResearchWilson's diseaseAutosomal recessive disorderATP7B proteinNegative copper balanceDiverse phenotypesATP7B geneUnexplained liver diseaseLong-term survivalCopper transportBiochemical testsGenetic testingRecessive disorderMetabolic correctionLiver transplantationMedical historyHepatic symptomsLiver diseaseATP7BCopper excretionNeurological assessmentDietary restrictionIncreased excretionCopper balancePsychiatric symptomsExcretion
2019
Chapter 15 General Considerations and the Need for Liver Transplantation
Camarata M, Weiss K, Schilsky M. Chapter 15 General Considerations and the Need for Liver Transplantation. 2019, 173-182. DOI: 10.1016/b978-0-12-811077-5.00015-3.Peer-Reviewed Original ResearchAcute liver failureLiver transplantationWilson's diseaseLiver failureMedical therapyUse of LTEnd-stage liver diseaseLive donor transplantsOnly viable treatment optionViable treatment optionCombination of dietRare autosomal recessive disorderAlternative transplant strategyWilson's disease patientsAutosomal recessive disorderAuxiliary transplantInitial presentationLiver diseaseMedical managementNeurological symptomsTransplant strategiesTreatment optionsDisease patientsDonor poolDisease progression
2010
Wilson’s Disease
Schilsky M, Mitchell K. Wilson’s Disease. Molecular Pathology Library 2010, 5: 655-663. DOI: 10.1007/978-1-4419-7107-4_43.Peer-Reviewed Original ResearchWilson's diseaseAcute hepatic necrosisFuture human studiesAutosomal recessive disorderLiver transplantationClinical findingsHepatic necrosisPathological changesFuture therapiesAnimal modelsHuman studiesHepatocyte transplantationMolecular pathogenesisUltrastructural evaluationLiver tissueDiseaseClinical methodsRecessive disorderTransplantationCopper metabolismPathogenesisTherapyGene therapyDisordersMolecular diagnostics
1998
Wilson’s Disease
Schilsky M, Sternlieb I. Wilson’s Disease. Current Clinical Practice 1998, 285-292. DOI: 10.1007/978-1-4612-1808-1_21.Peer-Reviewed Original ResearchWilson's diseaseCell deathAutosomal recessive disorderBiliary copper excretionInflammatory changesHepatic insufficiencyLiver diseaseLiver injuryMinor abnormalitiesCell injuryCopper excretionAbnormal accumulationDiseaseAccumulation of copperInjuryRecessive disorderDisease mutationsDeathCopper metabolismLiverOrgansChromosome 13CirrhosisInflammationFibrosisGenetic Hemochromatosis
Schilsky M, Sternlieb I. Genetic Hemochromatosis. Current Clinical Practice 1998, 241-247. DOI: 10.1007/978-1-4612-1808-1_18.Peer-Reviewed Original Research
1994
Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
Schilsky M. Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis. Hepatology 1994, 20: 529-533. PMID: 8045514, DOI: 10.1002/hep.1840200235.Peer-Reviewed Original ResearchConceptsYeast artificial chromosomesAmino acid homologyMenkes disease geneDisease genesCDNA clonesSingle marker intervalATPase geneArtificial chromosomesMarker intervalP-type ATPase familyCopper transportP-type ATPase genesWilson disease geneBinding regionsLinkage disequilibriumHeavy metal transportersATP-binding domainCandidate cDNA clonesGenetic mapping dataWD geneAutosomal recessive disorderOpen reading framePartial cDNA cloneMetal binding regionsHuman liver cDNA library