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
2023
“Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US
Bailey K, Sahota N, To U, Hedera P. “Because it is a rare disease…it needs to be brought to attention that there are things out of the norm”: a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US. Orphanet Journal Of Rare Diseases 2023, 18: 158. PMID: 37349760, PMCID: PMC10288732, DOI: 10.1186/s13023-023-02778-3.Peer-Reviewed Original ResearchConceptsPhysician experienceCoordination of careLow copper dietWilson's disease diagnosisLiver transplantationLifelong treatmentNeurological symptomsHepatic symptomsDefinitive diagnosisDietary regimenInsurance barriersWide patientPsychiatric symptomsPatientsRare diseaseCommunity outreach programsDiagnostic journeyQualitative studyMultidisciplinary teamWD patientsMedicationsMultiple specialtiesPhysiciansDiagnosisSymptoms
2016
Acute-on-chronic liver failure in cirrhosis
Arroyo V, Moreau R, Kamath PS, Jalan R, Ginès P, Nevens F, Fernández J, To U, García-Tsao G, Schnabl B. Acute-on-chronic liver failure in cirrhosis. Nature Reviews Disease Primers 2016, 2: 16041. PMID: 27277335, DOI: 10.1038/nrdp.2016.41.Peer-Reviewed Original ResearchConceptsChronic liver failureOrgan failureAcute decompensationLiver failureHigh short-term mortalityACLF grade 2ACLF grade 3Short-term mortalityAcute liver damageCommon organ failureLiver transplantationRespiratory failureRenal failureStandard therapySystemic inflammationViral hepatitisIntestinal translocationLiver damageACLFGrade 3Consortium guidelinesMortality ratePatientsGrade 2Bacterial products