2020
Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades
El-Beshlawy A, Eid K, AbdelSalam A, Mohamed F, Selim Y, Gebril N, Fateen E, Mistry P. Largest Cohort Study of Gaucher Disease Type 3 from a Single Center in Egypt Spanning Two Decades. Blood 2020, 136: 21-22. DOI: 10.1182/blood-2020-141776.Peer-Reviewed Original ResearchEnzyme replacement therapyOverall survivalPediatric hematology clinicGaucher diseaseHepatopulmonary syndromeCohort studyNeurological findingsGBA mutationsHigh-dose enzyme replacement therapyLarge single-centre cohort studySingle-center cohort studyType 1 Gaucher diseaseCommon neurological findingsGaucher cell infiltrationCenter cohort studySingle-center cohortBaseline disease severityBone marrow examinationDate of diagnosisGaucher disease type 3Kaplan-Meier analysisLong-term outcomesProgressive neurological diseaseEarly-onset diseaseLarge cohort study
2011
Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India
Nagral A, Mewawalla P, Jagadeesh S, Kabra M, Phadke SR, Verma IC, Puri RD, Gupta N, Kishnani PS, Mistry PK. Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. Indian Pediatrics 2011, 48: 779. PMID: 22080680, DOI: 10.1007/s13312-011-0128-4.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapyReplacement therapyGaucher diseaseNeurological symptomsPlatelet countMean increaseImiglucerase enzyme replacement therapyBone marrow examinationCohort of patientsMonths of treatmentMild neurological symptomsImpairment of qualitySignificant neurological involvementBone painDesignRetrospective analysisLysosomal storage disorderMarrow examinationSymptomatic anemiaNeurological involvementIndian patientsSpleen volumeSpleen sizeGlucocerebrosidase levelsDrug infusionBone disease