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
2010
Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease
Ayto RM, Hughes DA, Jeevaratnam P, Rolles K, Burroughs AK, Mistry PK, Mehta AB, Pastores GM. Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease. American Journal Of Transplantation 2010, 10: 1934-1939. PMID: 20659098, DOI: 10.1111/j.1600-6143.2010.03168.x.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyLiver transplantationGaucher diseaseLong-term enzyme replacement therapyEnd-stage liver diseaseType 1 Gaucher's diseaseSevere hepatic impairmentOrthotopic liver transplantationSuccessful liver transplantationLife-saving treatmentPrevalent lysosomal storage disorderHepatic impairmentLysosomal storage disorderYears postprocedureLiver failureLiver diseaseTerm outcomesReplacement therapyExcellent outcomesDemonstrable efficacyPatientsTransplantationPathological manifestationsDiseaseStorage disorder