2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiology
2011
Pediatric Liver Transplantation for Inherited Metabolic Liver Disease: A Single-Center Experience
Rosencrantz R, Cimsit B, Seashore M, Arvelakis A, Kulkarni S, Ghiroli M, Emre S. Pediatric Liver Transplantation for Inherited Metabolic Liver Disease: A Single-Center Experience. Transplantation Proceedings 2011, 43: 896-900. PMID: 21486623, DOI: 10.1016/j.transproceed.2011.02.035.Peer-Reviewed Original ResearchConceptsMetabolic liver diseaseLiver diseaseMS patientsMetabolic diseasesLiver transplantLiver transplantationStatus 1Pediatric liver transplant recipientsPELD/MELD scoreM groupHeterozygote parentsNeurologic motor functionAcute cellular rejectionDonor liver transplantLiver transplant recipientsDetectable EBV DNAPediatric liver transplantationSingle-center experiencePatients' overall survivalPatient survival outcomesMajority of childrenGenetic liver diseasesCellular rejectionCMV viremiaExcellent allograft