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
2024
Wilson disease: Novel Diagnostic and Therapeutic Approaches
Mariño Z, Schilsky M. Wilson disease: Novel Diagnostic and Therapeutic Approaches. Seminars In Liver Disease 2024 PMID: 39496313, DOI: 10.1055/a-2460-8999.Peer-Reviewed Original ResearchWilson's diseaseTrials of gene therapyLiver biopsy specimensDried blood spotsCase of WDBiliary copper excretionBiopsy specimensGene therapyDiagnostic advancesMonitoring therapyWD diagnosisNewborn screeningLiver diseaseCopper excretionTherapeutic approachesBlood spotsTherapyTherapeutic objectivesDiseaseDiagnosisLiverCopper assayPatientsExcretion
2019
Wilson's Disease
Kelly C, Ala A, Schilsky M. Wilson's Disease. 2019, 554-573. DOI: 10.1002/9781119211419.ch37.Peer-Reviewed Original ResearchUrinary copper excretionWilson's diseaseCopper excretionFull neurological evaluationUrine copper excretionDiagnosis of WDMultiple medical specialtiesSingle diagnostic testMagnetic resonance imagingRange of presentationsAsymptomatic patientsNeurological evaluationUncommon conditionAsymptomatic siblingsChelation treatmentMolecular testingWD patientsResonance imagingDiagnostic testsPatientsDiseaseExcretionMedical specialtiesDiagnosisSymptom development
2000
Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion
Schilsky M, Irani A, Gorla G, Volenberg I, Gupta S. Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion. Journal Of Biochemical And Molecular Toxicology 2000, 14: 210-214. PMID: 10789499, DOI: 10.1002/(sici)1099-0461(2000)14:4<210::aid-jbt5>3.0.co;2-g.Peer-Reviewed Original ResearchConceptsBiliary copper excretionCopper excretionLong-Evans AgoutiHepatic massIntact animalsLEA ratsLEC ratsExcretion capacityMinute study periodTwo-thirds partial hepatectomyLong-Evans Cinnamon ratsBile collectionPathophysiological mechanismsNovel therapiesHepatocyte massExcretionRatsPartial hepatectomyTransient increaseStudy periodATP7B functionOne-third