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
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
2008
Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists
Mistry P, Cappellini M, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman N, Massenkeil G. Diagnostic and Disease Management Algorithms for Gaucher Disease: A Guide for Haematologists. Blood 2008, 112: 4648. DOI: 10.1182/blood.v112.11.4648.4648.Peer-Reviewed Original ResearchDisease management algorithmsDifferential diagnosisGaucher diseaseImiglucerase enzyme replacement therapyDiagnostic algorithmType 1 Gaucher diseaseMajority of patientsPresence of splenomegalyMinority of patientsSimple diagnostic algorithmRisk of malignancyEnzyme replacement therapySubstrate reduction therapyBeta-glucocerebrosidase activityAshkenazi Jewish backgroundPresenting manifestationSkeletal complicationsDiagnostic delaySuch patientsHaematologic malignanciesIrreversible complicationsMultiple myelomaProtean manifestationsReplacement therapyDiagnostic challenge
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
Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention.
Mistry P, Sadan S, Yang R, Yee J, Yang M. Consequences of Diagnostic Delays in Type 1 Gaucher Disease: A Unique Opportunity among Hematologists/Oncologists for Early Diagnosis and Intervention. Blood 2006, 108: 3308. DOI: 10.1182/blood.v108.11.3308.3308.Peer-Reviewed Original ResearchDiagnostic delayHematologists/oncologistsGaucher diseaseBone painPreventable complicationsClassic symptomsFinal diagnosisProgressive lysosomal storage diseaseType 1 Gaucher's diseaseHematology/oncology specialistsChronic bone painJoint/boneN370S/N370SLife-threatening complicationsSeries of patientsLife-threatening sepsisSurvey of patientsSymptoms of patientsConstellation of symptomsAppearance of symptomsBone crisesLeg painPathological fracturesPathologic fractureSerious complications