2011
Wilson 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
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
1997
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1997, 13: 194-198. DOI: 10.1097/00001574-199705000-00004.Peer-Reviewed Original ResearchMutant proteinsNew insightsPathobiology of diseaseGene productsQuality control systemProtein productionMolecular studiesNew therapeutic treatmentsMolecular interactionsGenesPhysiologic functionGenetic hemochromatosisMetabolic diseasesNormal physiologic functionWilson's diseaseDiscoveryProteinCellular elementsInsightsTherapeutic treatmentBasic understandingAntitrypsin deficiencyMetabolic disordersAnimal modelsDisease