2023
Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatients
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