2018
Treating Other Symptoms of Wilson Disease: The Liver
Camarata M, Schilsky M. Treating Other Symptoms of Wilson Disease: The Liver. Clinical Gastroenterology 2018, 87-106. DOI: 10.1007/978-3-319-91527-2_5.Peer-Reviewed Original ResearchWilson's diseaseLiver diseaseLiver cancerEnd-stage liver diseaseAcute liver failureMinority of patientsTime of diagnosisRoutine laboratory testingWilson's disease patientsPortal hypertensionInflamed liverLiver failurePrompt initiationAppropriate therapyChronic inflammationDisease patientsFamily screeningDisease progressionTimely initiationSevere symptomsPathological accumulationCirrhosisPatientsDiseaseLiverIntroduction to Copper Metabolism and Wilson Disease
To U, Schilsky M. Introduction to Copper Metabolism and Wilson Disease. Clinical Gastroenterology 2018, 1-16. DOI: 10.1007/978-3-319-91527-2_1.Peer-Reviewed Original ResearchWilson's diseaseLiver cellsChronic inflammatory stateInflammatory stateCurrent therapiesFurther injuryPsychiatric symptomsCell injuryCellular injurySmall intestineInjuryDietary copperOxidative stressCopper accumulationIron metabolismLiverProtein ceruloplasminGenetic disordersMitochondrial functionAppropriate homeostasisCopper metabolismExpression of genesEssential trace elementDiseaseCopper deficiencyA comparison of resting-state functional magnetic resonance imaging between Neurological and Liver-only affected Wilson’s Disease patients (P4.014)
Nalamada K, Tinaz S, Arora J, Vives-Rodriguez A, Constable T, Schilsky M, Robakis D. A comparison of resting-state functional magnetic resonance imaging between Neurological and Liver-only affected Wilson’s Disease patients (P4.014). Neurology 2018, 90 DOI: 10.1212/wnl.90.15_supplement.p4.014.Peer-Reviewed Original ResearchChapter 19 Wilson Disease and Related Disorders
Schilsky M. Chapter 19 Wilson Disease and Related Disorders. 2018, 253-268. DOI: 10.1016/b978-0-323-47874-8.00019-5.Peer-Reviewed Original ResearchMedical therapyWilson's diseaseRegression of diseaseCentral nervous systemLiver transplantationLiver failureLiver injuryDisease progressionNervous systemRelated disordersThird decadeDiseaseGenetic disordersCopper metabolismTherapyDisordersSecond decadeCopper accumulationCirrhosisTransplantationInjuryDiagnosisLiverProgression
2011
Genetic Modifiers of Liver Injury in Hereditary Liver Disease
Ala A, Schilsky M. Genetic Modifiers of Liver Injury in Hereditary Liver Disease. Seminars In Liver Disease 2011, 31: 208-214. PMID: 21538285, DOI: 10.1055/s-0031-1276648.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAlpha 1-AntitrypsinAlpha 1-Antitrypsin DeficiencyAnimalsCation Transport ProteinsCopper-transporting ATPasesDisease ProgressionGenetic Predisposition to DiseaseHemochromatosisHemochromatosis ProteinHepatolenticular DegenerationHeredityHistocompatibility Antigens Class IHumansLiverMembrane ProteinsPhenotypeSeverity of Illness IndexConceptsLiver diseaseWilson's diseaseGenetic hemochromatosisHereditary liver diseasesHepatic injuryLiver injuryIron overloadATP7B genotypeA1-ATC282Y mutationClinical phenotypeDiseaseRegenerative capacityGenetic modifiersPatientsInjuryHemochromatosisHeterozygous genotypeModifier genesGenetic backgroundMutationsWide variationModifier effectSignificant variabilityLiver
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosisTreatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation?
Schilsky M. Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation? Current Gastroenterology Reports 2001, 3: 54-59. PMID: 11177695, DOI: 10.1007/s11894-001-0041-4.Peer-Reviewed Original ResearchConceptsWilson's diseaseSymptomatic patientsTreatment of choiceInitial therapyMaintenance therapyPregnant patientsCombination therapyZinc supplementationBest therapyNeurologic diseaseChelation therapyNext treatmentMedical treatmentPatientsTherapyDiseaseTrientineFurther studiesTreatmentMore effective alternativesEffective alternativeNew optionsPenicillamineLiverSupplementation
1999
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1999, 15: 200-207. PMID: 17023946, DOI: 10.1097/00001574-199905000-00004.Peer-Reviewed Original ResearchMetabolic diseasesCrigler-Najjar syndromeDonor hepatocytesMetabolic disordersGenetic hemochromatosisNew treatmentsHuman recipientsWilson's diseaseDiseaseBilirubin glucuronidationGene mutationsFunctional effectsTherapeutic capabilitiesTreatmentDisordersRespective gene productsPast yearTransplantationPathophysiologyMetal metabolismSyndromePathogenesisGlucuronidationHemochromatosisLiver
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 13CirrhosisInflammationFibrosis