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
Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease
Lo SM, McNamara J, Seashore MR, Mistry PK. Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease. Journal Of Inherited Metabolic Disease 2010, 33: 429-433. PMID: 20882348, PMCID: PMC3053412, DOI: 10.1007/s10545-010-9214-3.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinAcid PhosphataseBiomarkersCarrier ProteinsCells, CulturedCholesterol EstersDiagnostic ErrorsDNA Mutational AnalysisEnzyme InhibitorsEnzyme Replacement TherapyEsterificationFemaleGaucher DiseaseGenetic Predisposition to DiseaseGlucosylceramidaseGlucosyltransferasesHepatomegalyHeterozygoteHexosaminidasesHumansInfantIntracellular Signaling Peptides and ProteinsIsoenzymesMembrane GlycoproteinsMutationNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPhenotypePredictive Value of TestsSplenomegalyTartrate-Resistant Acid PhosphataseUnnecessary ProceduresConceptsNiemann-Pick disease type CAcid β-glucosidase activityDisease type CGaucher diseaseSerum chitotriosidaseCholesterol esterificationDiagnosis of NPCEnzyme replacement therapySkin fibroblastsTartrate-resistant acid phosphataseType CFalse-positive testingCultured skin fibroblastsVisceral diseasePediatric patientsPrompt diagnosisDiagnostic delayInitial presentationInitial diagnosisReplacement therapyEffective therapyNeurological abnormalitiesCorrect diagnosisPositive testingHigh index
2006
Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients
El‐Beshlawy A, Ragab L, Youssry I, Yakout K, El‐Kiki H, Eid K, Mansour IM, El‐Hamid S, Yang M, Mistry PK. Enzyme replacement therapy and bony changes in Egyptian paediatric Gaucher disease patients. Journal Of Inherited Metabolic Disease 2006, 29: 92-98. PMID: 16601874, DOI: 10.1007/s10545-006-0121-6.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingBone involvementSkeletal diseaseGaucher diseaseBone painGBA genotypeReplacement therapySkeletal involvementBone diseaseComplete symptomatic remissionEarly skeletal involvementMonths of ERTAbnormal radiographic findingsCorrelation of severityGaucher disease patientsEnzyme replacement therapyPaucity of dataCrippling complicationsGenotype-phenotype correlationComplete remissionVisceral diseaseVisceral involvementRadiological manifestationsRadiographic findingsPatient population
2001
Molecular Diagnosis of Wilson Disease
Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.Peer-Reviewed Original ResearchConceptsDisease allelesMolecular diagnosisGenetic diagnosisATP7B geneExtreme diversityGenesConformation polymorphism analysisMutationsVariable disease manifestationsDNA analysisWD phenotypeBiochemical criteriaPolymorphism analysisNovel mutationsAllelesCommon mutationsWilson's diseaseWild-type statusDiversityPhenotypeSimilar ethnicityHeterozygote carriersH1069QRegionFamily