2023
Diagnosis and classification of vascular liver disorders
González I, Jain D. Diagnosis and classification of vascular liver disorders. Diagnostic Histopathology 2023, 29: 36-51. DOI: 10.1016/j.mpdhp.2022.10.005.Peer-Reviewed Original ResearchLiver vasculatureVascular liver disordersUnderlying liver diseaseNoncirrhotic portal hypertensionAcute liver failureDual blood supplyDiverse clinical presentationsTerminal portal venulesKey histologicPortal hypertensionAtypical presentationLiver biopsyLiver failureClinical featuresClinical presentationHepatic arteryLiver diseaseUnclear diagnosisHepatic veinHistologic findingsPortal veinChallenging disorderLiver disordersBlood supplyHepatic sinusoids
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