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
2018
Diagnosis Confirmation and Screening of Wilson Disease
Pericleous M, Kelly C, Schilsky M. Diagnosis Confirmation and Screening of Wilson Disease. Clinical Gastroenterology 2018, 17-44. DOI: 10.1007/978-3-319-91527-2_2.Peer-Reviewed Original Research