2021
Lysosomal Storage Disorders in Children
Mistry P, Thurberg B, Grabowski G. Lysosomal Storage Disorders in Children. 2021, 570-592. DOI: 10.1017/9781108918978.032.Peer-Reviewed Original ResearchLiver diseasePost-transplant careFatty liver diseaseLong-term managementCare of childrenLiver transplantLysosomal storage disorderPediatric hepatologySurgical aspectsTreatment strategiesVariety of diseasesEarly diagnosisMetabolic disordersClinical practiceGenetic testingDiseaseStorage disorderImproved diagnosisHuge burdenHealthcare systemDisordersChildrenDiagnosisCareMajor advances
2019
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinic
2009
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. British Journal Of Haematology 2009, 147: 561-570. PMID: 19732054, PMCID: PMC2774157, DOI: 10.1111/j.1365-2141.2009.07872.x.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge DistributionAge FactorsAgedChildChild, PreschoolDrug Administration ScheduleEnzyme Replacement TherapyFemaleGaucher DiseaseGlucosylceramidaseHumansIncidenceInfantInfant, NewbornMaleMiddle AgedOsteonecrosisRecombinant ProteinsRegistriesSex DistributionSplenectomyTime FactorsYoung AdultConceptsType 1 Gaucher diseaseYear of diagnosisAvascular necrosisIncidence rateEnzyme replacement therapyGaucher RegistryReplacement therapyInternational Collaborative Gaucher Group Gaucher RegistryRisk of AVNGaucher diseaseAdjusted incidence rate ratioInitiation of ERTIndependent risk factorIncidence rate ratiosTiming of initiationRisk factorsHigh riskPatientsDiagnosisTherapyRate ratioSplenectomyRegistryNecrosisIncidence
2007
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention. American Journal Of Hematology 2007, 82: 697-701. PMID: 17492645, DOI: 10.1002/ajh.20908.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyDiagnostic delayGaucher diseaseType 1 Gaucher diseaseLife-threatening manifestationsLife-threatening complicationsSeries of patientsSevere disease manifestationsSurvey of patientsSevere complicationsReplacement therapyMultiple myelomaClassic symptomsFinal diagnosisDisease manifestationsDifferential diagnosisEarly diagnosisCorrect diagnosisPhysician educationPatientsAnecdotal experienceComplicationsDiagnosisSymptomsGD symptoms
2006
Phenotype variations in Gaucher disease
Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityGenotype-phenotype correlationDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosisDiagnosisSeverityManifestations
2002
Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G, Mistry P. Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. Journal Of Inherited Metabolic Disease 2002, 25: 131-132. PMID: 12118528, DOI: 10.1023/a:1015680827730.Peer-Reviewed Original ResearchConceptsDiagnosis of PHPulmonary hypertensionCardiac catheterizationEvidence of PHNormal pulmonary artery pressureOpen lung biopsyPulmonary artery pressureArtery pressureDobutamine echocardiographyLung biopsyEchocardiographic assessmentReplacement therapyPatient managementPatientsEchocardiographyGaucher diseaseGaucher patientsDiseaseHypertensionCatheterizationType IDiagnosisComplicationsBiopsyTherapy
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosis
1997
12 A practical approach to diagnosis and management of Gaucher's disease
Mistry P, Abrahamov A. 12 A practical approach to diagnosis and management of Gaucher's disease. Best Practice & Research Clinical Haematology 1997, 10: 817-838. PMID: 9497866, DOI: 10.1016/s0950-3536(97)80042-x.Peer-Reviewed Original ResearchConceptsGaucher diseaseAdditional prognostic informationPeripheral blood leukocytesMaximum therapeutic responseAcid beta-glucosidase activityAdjuvant therapyDisease activityLaboratory parametersHistological diagnosisDisease progressionPrognostic informationTherapeutic responseSerial measurementsIndividual patientsBlood leukocytesChitotriosidase activityEnzyme therapyOptimal timingDiseaseTherapyDiagnosisCellular burdenTreatmentSpecial considerationBeta-glucosidase activity