2016
Overcoming the Next Barriers to Successful Therapy.
Cohen IJ, Baris H, Mistry PK, Sands MS. Overcoming the Next Barriers to Successful Therapy. Pediatric Endocrinology Reviews : PER 2016, 13 Suppl 1: 629. PMID: 27491209.Peer-Reviewed Original Research
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
2007
Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease
Mistry P, Germain D. Buts thérapeutiques dans la maladie de Gaucher Therapeutic objectives in Gaucher disease. La Revue De Médecine Interne 2007, 28: 171-175. PMID: 18228683, DOI: 10.1016/s0248-8663(07)78876-8.Peer-Reviewed Original ResearchConceptsGaucher diseaseLife-threatening complicationsStandard of careMaximal clinical benefitRemarkable safety profileTreatment of GDQuality of lifeType 1 GDBone crisesLifelong treatmentClinical benefitSafety profileAsymptomatic phaseTherapeutic goalsDisease evolutionTherapeutic objectivesCareful monitoringLa maladieSkeletal damageNorth American expertsDiseaseDisease phenotypePatientsTreatmentOptimal time
2006
Therapeutic goals in Gaucher disease
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.Peer-Reviewed Original ResearchConceptsGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsGaucher phenotypeTreatmentOptimal timeTolerabilityAmerican expertsSeverityCare
2005
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.Peer-Reviewed Original ResearchMeSH Keywords1-DeoxynojirimycinContraindicationsGaucher DiseaseGlucosylceramidaseGlucosyltransferasesHumansPractice Guidelines as TopicConceptsType 1 Gaucher diseaseEnzyme replacementGaucher diseaseSymptomatic patientsClinical manifestationsUse of miglustatProgressive lysosomal storage disorderHealth-related qualitySignificant side effectsIntravenous enzyme replacementAutosomal recessive deficiencyImiglucerase treatmentPulmonary manifestationsLysosomal storage disorderOral treatmentPulmonary diseasePatient managementSide effectsPatientsMiglustatLimited indicationsBeneficial effectsRecessive deficiencyPosition statementStorage disorder
2000
Treatment of Gaucher's disease with OGT 918
Mistry P. Treatment of Gaucher's disease with OGT 918. The Lancet 2000, 356: 676. PMID: 10968454, DOI: 10.1016/s0140-6736(00)02618-0.Peer-Reviewed Original Research