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
1999
Neonatal Cholestasis: A Red Alert for the Jaundiced Newborn
Pashankar D, Schreiber R. Neonatal Cholestasis: A Red Alert for the Jaundiced Newborn. Canadian Journal Of Gastroenterology And Hepatology 1999, 14: 67d-72d. PMID: 11110615, DOI: 10.1155/2000/657368.Peer-Reviewed Original ResearchConceptsNeonatal cholestasisNeonatal cholestatic disordersBile acid metabolismPersistent jaundiceYounger patientsPrompt diagnosisCholestatic disordersBile flowNeonatal jaundiceConjugated hyperbilirubinemiaJaundiced newbornsCholestasisTherapeutic interventionsEarly interventionAcid metabolismJaundiceHyperbilirubinemiaNewbornsFurther investigationInterventionPatientsPrognosisEtiopathogenesisInfantsRed alert