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
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