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
2016
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Reports 2016, 31: 15-27. PMID: 27008195, PMCID: PMC5388645, DOI: 10.1007/8904_2016_548.Peer-Reviewed Original ResearchLysosomal storage disorderNeuronal ceroid lipofuscinosisBlood spotsDiagnostic testsConsideration of therapyStorage disorderStandard of careCommon lysosomal storage disorderMajor unmet needAccurate diagnostic testHigh consanguinity rateBlood sample transportationDried Blood SpotsIrreversible complicationsI-cell diseaseAffected patientsCostly therapiesTimely diagnosisMetabolic disordersMucopolysaccharidosis IIEconomical diagnostic testsUnmet needUtility of DBSDBS resultsSpecific biomarkers
2014
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 72-81. PMID: 25345088, PMCID: PMC4520262.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Gaucher diseaseNatural historyAvascular osteonecrosisType 1 Gaucher diseaseComplex multisystem phenotypeStandard of careProgressive neurodegenerative diseaseType 3 diseaseEnzyme replacement therapyDisease type 1Bone involvementLysosomal storage disorderLytic lesionsReplacement therapyTreatment optionsBone marrowType 2Clinical phenotypeMetabolic defectsType 1Multisystem phenotypeNeurodegenerative diseasesBiallelic mutationsDisease
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 D. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s34-s38. DOI: 10.1016/s0248-8663(06)80010-x.Peer-Reviewed Original ResearchGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsTreatmentOptimal timeTolerabilityAmerican expertsSeverityCareTherapeutic 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
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseHepatocellular carcinomaGaucher diseaseLiver transplantationInborn errorsType 1 Gaucher's diseaseNecessitating liver transplantationNon-neuronopathic diseaseDevelopment of cirrhosisMajority of patientsStandard of careRisk of malignancyEnzyme replacement therapyDeficiency of glucocerebrosidaseRare inborn errorVariety of neoplasmsAutosomal recessive disorderMarrow infiltrationPulmonary diseaseSupplemental therapyReplacement therapyCase reportLysosomal storage diseaseTissue macrophagesType 2