2022
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence
Mistry P, Kishnani P, Wanner C, Dong D, Bender J, Batista J, Foster J. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence. Orphanet Journal Of Rare Diseases 2022, 17: 362. PMID: 36244992, PMCID: PMC9573793, DOI: 10.1186/s13023-022-02517-0.Peer-Reviewed Original ResearchTransformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
Verma IC, El-Beshlawy A, Tylki-Szymańska A, Martins A, Duan Y, Collin-Histed T, van der Linde MS, Mansour R, Dũng VC, Mistry PK. Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise. Orphanet Journal Of Rare Diseases 2022, 17: 87. PMID: 35369888, PMCID: PMC8977120, DOI: 10.1186/s13023-022-02192-1.Peer-Reviewed Original Research
2018
Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
Puri R, Kapoor S, Kishnani P, Dalal A, Gupta N, Muranjan M, Phadke S, Sachdeva A, Verma I, Mistry P, Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics 2018, 55: 143-153. PMID: 29503270, DOI: 10.1007/s13312-018-1249-9.Peer-Reviewed Original ResearchConceptsIndian AcademyGaucher diseaseIrreversible complicationsType 3 Gaucher diseaseOptimal management guidelinesSevere irreversible complicationsInitiation of therapyProgressive neurological symptomsManagement of patientsPrevention of recurrenceBlood-brain barrierStandard of careEnzyme replacement therapyHealth care systemMedical GeneticsLysosomal storage disorderDiagnostic delayNeurological symptomsTask ForceClinical manifestationsReplacement therapyPatient populationIndian patientsBrain barrierEarly initiation
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
2011
Reducing selection bias in case-control studies from rare disease registries
Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.Peer-Reviewed Original Research
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
2008
Life expectancy in Gaucher disease type 1
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S. Life expectancy in Gaucher disease type 1. American Journal Of Hematology 2008, 83: 896-900. PMID: 18980271, PMCID: PMC3743399, DOI: 10.1002/ajh.21305.Peer-Reviewed Original ResearchConceptsGD1 patientsLife expectancyGaucher disease type 1Cause of deathICGG Gaucher RegistryType 1 patientsDisease type 1Gaucher disease type 1 patientsLife table methodReference populationGaucher RegistryPatientsType 1Table methodStandard life-table methodsU.S. populationSurvival dataBirthExpectancyDeathPopulationMalignancyCardiovascularRegistryMicrovillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve
Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. Microvillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve. Journal Of Clinical Gastroenterology 2008, 42: 400-403. PMID: 18277898, DOI: 10.1097/01.mcg.0000225632.07039.b6.Peer-Reviewed Original ResearchConceptsBicuspid aortic valveMicrovillus inclusion diseaseAortic valveInclusion diseaseVentricular outlet tract obstructionTract obstructionDiarrheal disordersDisease AssociatedCardiac malformationsIntestinal epitheliumCardiac phenotypeMicrovillus inclusionsCoarctationAortaDiseasePossible linkNeonatesObstructionValveMalformationsEpithelium